Distribution Of Gene Frequencies Research Articles

Genetic Diversity and Profile of Red Algae Pterocladiella capillacea (Gelidiales, Rhodophyta) along the Coast of China

Red algae Pterocladiella capillacea off the coast of China were investigated for genetic diversity. With 176 samples categorized into six populations based on concatenated rbcL and cox1 sequences, the results rang warning bells for the genetic diversity of Pterocladiella capillacea along the Chinese coastline: (1) a good diversity of haplotype (Hd > 0.5) in Naozhou and Hui’an populations situated along the southern coast of China, but highest in the former; (2) less nucleotide diversity in each of the six populations (Pi < 0.005); (3) genetic differentiation occurred between the north population in Changdao and the two southern grown populations in Nan’ao, and Naozhou. To identify molecular markers, an MP phylogenetic tree was used to illustrate genetic profiles in detail, with 161 concatenated sequences clustered into four branches: Changdao (north), Nan’ao (south), Naozhou (south), and the remaining regions (middle). The Fst value for each of Changdao, Nan’ao, and Naozhou was greater than 0.5, which denotes that these three populations are genetically different to those growing in the middle coast. Moreover, a 30-haplotype-based median-joining network corroborated this genetic differentiation, though variations between all the investigated populations were not very high due to the relatively smaller values of genetic distance between the six (Dxy < 0.01). Overall, red algae P. capillacea in Chinese coastal seawater showed a higher haplotype diversity and lower nucleotide diversity. Such a genetic profile indicates that both natural random genetic drift and interference from human activities have possibly affected the distribution of gene frequencies in red algae P. capillacea along the Chinese coastline.

Gene and genotype frequencies of immunoglobulin-like natural killer cell receptors in the population of Samara region

Background. The using of killer-cell immunoglobulin-like receptor (KIR) composition data is of increasing interest in clinical practice to select an optimal donor for allogeneic hematopoietic stem cell transplantation for treatment of hematologic malignancies to reduce graft versus host disease and the risk of relapse. It is also of interest to study the frequencies of KIR genes and genotypes in different populations. For the Russian Federation, KIR gene and genotype frequencies have been described for only a few relatively small samples and have not been fully studied. The study of KIR gene and genotype frequencies has not been conducted for the Samara region population to date.Aim. To study the frequencies of KIR genes and genotypes in the population of Samara region and to compare the data with previously described Russian populations.Materials and methods. To study the frequencies of KIR genes and genotypes, molecular genetic typing of 142 CBUs from the public cord blood bank of the Samara Regional Medical Centre “Dynasty” was performed. Molecular genetic typing of KIR genes was performed by polymerase chain reaction with sequence-specific primers with subsequent visualization of products in agarose gel. 16 KIR genes and pseudogenes were analyzed: 2DL1, 2DL2, 2DL3, 3DL1, 3DL2, 2DS1, 2DS2, 2DS3, 2DS4, 2DS5, 3DS1, 2DP1, 3DL3, 2DL4, 2DL5, 3DP1. KIR gene frequencies were determined by direct counting. Genotypes were determined using Allele Frequencies database. A determination B-content group was performed using the Donor KIR B-content group calculator. Statistical analysis was performed using the χ2 test.Results. The highest frequency of KIR inhibitory genes was found for KIR2DL1 (98.6 %), KIR3DL1 (98.6 %), KIR2DL3 (96.5 %), KIR2DL5 (46.5 %), and KIR2DL2 (34.5 %). The most frequent among the activating receptor genes was KIR2DS4 (89.4 %), the frequencies of other KIR activating genes were KIR2DS2 – 45.1 %, KIR2DS1 – 35.9 %, KIR2DS3 33.8 %, and KIR2DS5 – 26.1 %. Comparative analysis of KIR gene frequencies in the population of Samara region and other Russian populations revealed certain differences. Significant differences in the frequencies of occurrence were found for KIR2DL3, KIR2DS4, KIR2DL2, KIR2DL5, KIR2DS3, KIR2DS5, as well as KIR2DP1 and KIR3DP1. Examination of 142 samples revealed 45 different genotypes: AA genotypes were detected in 30 % and Bx genotypes in 70 % of cases. AA genotype ID195 with a frequency of 5.6 % was detected, which has not been previously described in Russian populations. Among the Samara region population sample, only 3.5 % had the “best” status, 20.4 % had the “better” status, and 76.1 % had the “neutral” status of the B-content.Conclusion. The results obtained in this sample on the frequencies of KIR genes and genotypes differ from the previously published data for the Russian Federation. Of interest is the finding of a greater diversity of genotypes among a rather small study group, the detection of an atypical ID195 genotype, and the difference in the representation of B-content groups. The analysis of KIR genotypes in the population of Samara region can be used in the selection of optimal CBU and hematopoietic cell/bone marrow donors in addition to HLA typing. Studying the frequency distribution of KIR and HLA genes and genotypes can play a role in the study of fundamental aspects of human immunology and population genetics.

Establishment of AA-NAT, SCD, PROP1, and IGFBP3 gene frequency distributions in Karacabey Merino and Kivircik Sheep Breeds

Thus, the aim of the current study was to investigate the genotypic dispersion of AA-NAT, SCD, PROP1, and IGFBP3 genes in the target population. Primarily, the genomic DNA was isolated from blood samples by the phenol/chloroform method. The genomic analyses were performed on a total of 160 Karacabey Merino (KM) sheep (n=80) and Kivircik (n=80). The PCR-RFLP method was used to determine the genotype of the SNPs. Deviation from Hardy–Weinberg equilibrium (HWE) and population genetic assays such as observed (Ho) and expected (He) heterozygosities, effective allele numbers (Ne), and the polymorphism information content (PIC) were calculated for each gene in the population. As a result, there was no deviation from HWE was determined except SCD and PROP1 gene in KM. The most frequent genotypes were found AA (66,25% and 87,50%) for AA-NAT gene, CC (93,75% and 91,25%) for SCD gene and CC genotype (70,00% and 56,25%) for PROP1 gene in KM and Kivircik sheep. All breeds were detected monomorphic in terms of the IGFBP3 gene. In conclusion, the other regions of the IGFBP3 gene which were determined as monomorphic in the studied flock could be researched. Moreover, further studies should be necessary for defining the effects of investigated genes on related traits in KM and Kivircik sheep in terms of polymorphic genes specified.

Genetic diversity and phylogenetic study of Ongole Grade cattle population in Central Java based on blood protein polymorphism

Abstract. Lestari DA, Sutopo, Setiaji A, Kurnianto E. 2023. Genetic diversity and phylogenetic study of Ongole Grade cattle population in Central Java based on blood protein polymorphism. Biodiversitas 24: 617-624. This research provides useful information to reflect the genetic structure and to determine appropriate breeding strategies for the Ongole Grade cattle population in Central Java. The objectives of this research were to investigate the genetic diversity and phylogenetic relationship of the Ongole Grade cattle (Bos indicus) population in Central Java based on blood protein polymorphism. A total of 208 blood samples were collected, which belonged to 6 populations of Ongole Grade cattle in Central Java, namely Rembang, Blora, Kebumen, Semarang, Magelang, and Kudus regency. Blood protein analysis was conducted by Sodium Dodecyl Sulfate-Polyacrilamide Gel Electrophoresis (SDS-PAGE) methods to separate blood protein based on molecule weight. Results showed 4 blood protein locus were clearly identified, namely Albumin (Alb), Post Albumin (Pa), Ceruloplasmin (Cp), and Amylase-I (Amy-I), which formed 9 identified alleles and 15 genotypes. All populations had different allele and gene frequency distribution for each locus, which dominated by allele AlbB (0.525), PaB (0.556), CpF (0.608), and Amy-IB (0.639) and by genotype BB (0.312) for Alb loci, BB (0.429) for Pa loci, FS (0.423) for Cp loci and BB (0.472) for Amy-I. Ongole Grade cattle population in this study showed deviation in Hardy-Weinberg Equilibrium (HWE) (P<0.05) for Blora, Kebumen, Semarang, and Kudus, while the rest populations showed in HWE condition. Average heterozygosity and genetic distance of the Ongole Grade cattle population in the recent study were range 0.328-0.529 (for Magelang and Kebumen populations, respectively) and 0.0057-0.0955 (for the Rembang-Kebumen population and Magelang-Kebumen population), respectively. In conclusion, Ongole Grade cattle population in Central Java had high genetic diversity and was divided into two major clusters.

Frequency distribution of virulence factors and antibiotic resistance genes in uropathogenic Proteus species isolated from clinical samples.

One of the most common causes of urinary tract infections (UTIs) is Proteus species. Because there is little information on the pathogenicity of Proteus species isolated from Iran, we assessed their virulence characteristics and antibiotic resistance in this study. In Shahrekord, Iran, 260 isolates of Proteus causing UTIs were identified from patients. Polymerase chain reaction for gene amplification was used to determine virulence features and antibiotic resistance gene distribution in uropathogenic Proteus spp. After biochemical and molecular analysis, 72 (27.69%) of the 260 collected samples were recognized as Proteus mirabilis, and 127 (48.84%) specimens were Pr. vulgaris in both male and female forms. A significant interaction effect between Pr. mirabilis and Pr. vulgaris infections and the sex of patients was seen in both the male and female groups. No statistically significant difference was observed between Pr. mirabilis infection and season in different year seasons. However, in different seasons of the year, a statistically significant difference was observed between infection with Pr. vulgaris in autumn and other seasons. There was a considerable difference between Pr. mirabilis and Pr. vulgaris infections at different ages in various age groups. As people aged, infections occurred more frequently. Fim,pap,kspMT, and set1 genes had the highest expression in both Pr. vulgaris and Pr. mirabilis. Also, the highest rate of antibiotic resistance of Pr. vulgaris and Pr. mirabilis is attributed to the high expression of aac(3)-IV,tet(A), and blaSHV genes. In conclusion, identifying these genes as the key controllers of Proteus virulence factors might help with better infection management.

Comparative analysis of antigen coding genes in 15 red cell blood group systems of Yunnan Yi nationality in China: A cross-sectional study.

IntroductionThere are few analyses of the 15 red blood group system antigen coding genes found in the Yunnan Yi nationality. This has caused many poteintial dangers relating to clinical blood transfusion. In this report, the coding genes and distribution of 15 blood group antigens system in the Yi nationality were tested and compared with those of Han nationality and other ethnic minorities.MethodsThe samples came from the healthy subjects in the first people's Hospital of Qujing, Yunnan Province. Two hundred and three Yunnan Yi and 197 Han nationality individuals were included. Thirty‐three blood group antigens with a low frequency from the 15 blood group systems of Yunnan Yi blood donors were genotyped and analyzed by PCR‐SSP. Sanger sequencing was used to detect A4GALT from the Yunnan Yi nationality. The χ 2 test was used to analyze observed and expected values of gene distribution to verify conformation to the Hardy‐Weinberg equilibrium law. Fisher's exact test was used to analyze gene frequency distribution, and the statistical significance was set at p < 0.05.ResultsThe ABO blood group examination results for the Yi nationality and the local Han nationality in Qujing City, Yunnan Province, showed the majority were type A and type O, while the least prevalent was type AB. RhD+ accounts for more than 98% of the Yi and Han populations. There was a significant difference in ABO blood group antigen distribution between these two nationalities (p < 0.05), but there was no significant difference in the composition ratio of D antigen in the Rh blood group system (p > 0.05). Compared with Tibetan (Tibet), Zhuang (Nanning), and Dong (Guangxi), the gene distribution frequencies of Rh blood group system phenotype CC were significantly lower in the Yunnan Yi nationality (p < 0.05). There were significant differences in six erythrocyte phenotypic antigens in the Yi nationality in Yunnan compared with Han nationality, such as LW(a−b−), JK(a−b+), MMSs, Di(a−b+), Wr(a−b−), and Kp(a−b+) (p < 0.05). There were gene phenotypes with a low frequency in the four rare blood group systems: LW, MNS, Wright, and Colton. Several different mutation types occurred in the P1PK blood group system's A4GALT gene.ConclusionYunnan Yi nationality has a unique genetic background. There are some significantly different distributions of blood group system genes with a low frequency in different regions and groups in China. Multiple mutations in the A4GALT gene of the P1PK blood group system may be related to their environment and ethnic evolution.

Correlation between ERα gene polymorphism and multiple sclerosis and neuromyelitis optica.

Objective:To study the polymorphism distribution of estrogen receptor (ER) α gene and the correlation between different types of polymorphism in multiple sclerosis (MS) and neuromyelitis optica (NMO) patients.Methods:Forty-six cases of MS and NMO diagnosed from June 2018 to December 2019 were collected. Peripheral venous blood samples were collected. The patient’s gender, age of onset, course of disease, and other clinical data were recorded. Fifty-eight healthy volunteers of the same age and sex were selected. By means of Pvu II and Xba I restriction fragment length polymorphism enzyme recognition sites of ER α gene, polymerase chain reaction-restriction fragment length polymorphism analysis was conducted.Results:There was no significant difference in the frequency distribution of ER α gene’s PP, Pp, and pp genotype between MS and NMO case group and control group (P = .598). Frequency distribution of ER α gene’s XX, Xx, and xx was statistically significant between MS and NMO case group and control group (P = .021). Among them, distribution of Xx and Xx gene frequency between patient group and the control group was statistically significant (P = .001, OR = 4.622, 95% CI: 1.803–11.852). There was no significant correlation between ER α genotypes and the onset age in patient group (P > .05). The difference was statistically significant in disease duration of XX and Xx genotype (P = .006). The comparison of Xx and xx genotype frequency distribution in gender exists a difference(P = .047, OR = 7.500, 95% CI: 1.023–54.996).Conclusions:Xba I gene polymorphisms in the ER α gene have correlation with MS and NMO. Xba I gene could be a risk factor of MS and NMO pathogenesis, especially the women with Xx genotype are more vulnerable. Xba I gene polymorphisms in the ER α gene may impact the disease duration of MS and NMO, or rather, the disease duration of Xx genotype persists longer than Xx genotype. Pvu II gene polymorphisms in the ER α gene has no correlation with MS and NMO.

Study on the Relationship between MMP-2, MMP-9 Gene Polymorphisms, and the Risk of Colorectal Cancer.

Objective The aim of the study is to explore the relationship between matrix metalloproteinase 2 (MMP-2) and matrix metalloproteinase 9 (MMP-9) gene polymorphisms and the risk of colorectal cancer. Methods From January 2019 to December 2021, 308 patients with colorectal cancer in our hospital were selected to be included in the colorectal cancer group and 300 normal healthy people were included in the control group. We perform genotyping, compare the genotype frequencies between the colorectal cancer group and the control group, calculate the relationship between MMP-2 and MMP-9 gene polymorphisms and disease risk, and analyze the genotype distribution characteristics of colorectal cancer patients with different pathological stages and lymph node metastasis status. The expression levels of serum MMP-2 and MMP-9 in patients with different genotypes were compared. Results The frequency of CC genotype and C gene at the MMP-2 gene−735 (C/T) locus in the colorectal cancer group was higher than that of the control group, and the frequency of TT genotype and T gene at MMP-9 gene−1562 (C/T) locus was a higher control group (P < 0.05). The comparison of genotype and gene frequency distribution of MMP-2 gene−1306 (C/T), −790 (T/G), and MMP-9 gene R668Q and P574R between the colorectal cancer group and the control group (P > 0.05); MMP-2 gene−735 (C/T) locus CC genotype and MMP-9 gene−1562 (C/T) locus TT genotype are dangerous genotypes for colorectal cancer. OR values were 1.490 (95% CI: 1.085–2.047), 1.519 (95% CI: 1.061–2.174); TNM stage III-IV, the proportion of CC genotype and TT genotype at MMP-9 gene−1562 (C/T) locus in patients with lymph node metastasis is higher than that without lymph node metastasis of TNM stage I-II patients (P < 0.05); MMP-2 gene in colorectal cancer patients. Serum MMP-2 levels in patients with CC genotype at 735 (C/T) locus were higher than those with CT + TT genotype, and serum MMP-9 levels in patients with TT genotype at MMP-9 gene−1562 (C/T) locus were higher CT + CC genotype patients (P < 0.05). Conclusion The CC genotype at −735 (C/T) locus of the MMP-2 gene and the TT genotype at−1562 (C/T) locus of the MMP-9 gene are risk genotypes for the development of colorectal cancer.

Killer-Cell Immunoglobulin-like Receptor Diversity in an Admixed South American Population.

Natural Killer (NK) cells are innate immune cells that mediate antiviral and antitumor responses. NK cell activation and induction of effector functions are tightly regulated by the integration of activating and inhibitory receptors such as killer immunoglobulin-like receptors (KIR). KIR genes are characterized by a high degree of diversity due to presence or absence, gene copy number and allelic polymorphism. The aim of this study was to establish the distribution of KIR genes and genotypes, to infer the most common haplotypes in an admixed Colombian population and to compare these KIR gene frequencies with some Central and South American populations and worldwide. A total of 161 individuals from Medellin, Colombia were included in the study. Genomic DNA was used for KIR and HLA genotyping. We analyzed only KIR gene-content (presence or absence) based on PCR-SSO. The KIR genotype, most common haplotypes and combinations of KIR and HLA ligands frequencies were estimated according to the presence or absence of KIR and HLA genes. Dendrograms, principal component (PC) analysis and Heatmap analysis based on genetic distance were constructed to compare KIR gene frequencies among Central and South American, worldwide and Amerindian populations. The 16 KIR genes analyzed were distributed in 37 different genotypes and the 7 most frequent KIR inferred haplotypes. Importantly, we found three new genotypes not previously reported in any other ethnic group. Our genetic distance, PC and Heatmap analysis revealed marked differences in the distribution of KIR gene frequencies in the Medellin population compared to worldwide populations. These differences occurred mainly in the activating KIR isoforms, which are more frequent in our population, particularly KIR3DS1. Finally, we observed unique structural patterns of genotypes, which evidences the potential diversity and variability of this gene family in our population, and the need for exhaustive genetic studies to expand our understanding of the KIR gene complex in Colombian populations.

Genetic polymorphism of Pit-1 and CSN3 genes in Holstein calves and its associations with calf birth weight

The aim of this study was to examine the polymorphic structures of Pit-1 and CSN3 genes of Holstein calves bred in Gümüşhane province of Türkiye, to determine the distribution of genotype and allele gene frequencies, as well as examine the effects of determined polymorphisms on birth weight of calves. HinfI polymorphisms of Pit-1 and CSN3 genes were identified in DNA isolated from blood samples of 100 Holstein calves used in the study, using the PCR-RFLP method. According to the Hardy–Weinberg genetic equilibrium test, it was observed that the distribution of genotype frequencies of HinfI polymorphisms of Pit-1 genes in the studied population was in equilibrium, but not in equilibrium in terms of CSN3 gene location. The AA, AB, and BB genotype frequencies of the Pit-1 gene in the population were 13.4 %, 40.2 %, and 46.3 %, respectively; the frequency of the A allele was 0.34, while for B allele it was 0.66. The AA, AB, and BB genotype frequencies of the CSN3 gene were found to be 24.5 %, 36.7 %, and 38.8 %, respectively; the frequency of the A allele was 0.43 and the frequency of the B allele was 0.57. According to the Hardy–Weinberg genetic equilibrium test, the distribution of genotype frequencies was in equilibrium in the Pit-1/HinfI polymorphism, but not in the CSN3/HinfI polymorphism. A statistically significant relationship was not found between the genotypes of both polymorphic regions and calf birth weight.

A hierarchy of selection pressures determines the organization of the T cell receptor repertoire.

We systematically examine the receptor repertoire in T cell subsets in young, adult, and LCMV-infected mice. Somatic recombination generates diversity, resulting in the limited overlap between nucleotide sequences of different repertoires even within the same individual. However, statistical features of the repertoire, quantified by the V gene and CDR3 k-mer frequency distributions, are highly conserved. A hierarchy of immunological processes drives the evolution of this structure. Intra-thymic divergence of CD4+ and CD8+ lineages imposes subtle but dominant differences observed across repertoires of all subpopulations in both young and adult mice. Differentiation from naive through memory to effector phenotype imposes an additional gradient of repertoire diversification, which is further influenced by age in a complex and lineage-dependent manner. The distinct repertoire of CD4+ regulatory T cells is more similar to naive cells in young mice and to effectors in adults. Finally, we describe divergent (naive and memory) and convergent (CD8+ effector) evolution of the repertoire following acute infection with LCMV. This study presents a quantitative framework that captures the structure of the repertoire in terms of its fundamental statistical properties and describes how this structure evolves as individual T cells differentiate, migrate and mature in response to antigen exposure.

Proteins of the lectin pathway of the complement system activation: immunobiological functions, genetics and involvement in the pathogenesis of human diseases

The complement system is the most ancient components in the innate immunity, mainly functioning to primarily eliminate bacterial agents intravascularly. Moreover, the complement complex proteins play a role as a bridge between the systems of innate and adaptive immunity providing adequate conditions for maturation and differentiation of B- and T-lymphocytes. The complement system consists of plasma proteins and membrane receptors. Plasma proteins interact with each other via the three described cascade pathways lectin (which is most ancient phylogenetically), alternative and classical. Lectins are proteins comprising a separate superfamily of pattern-recognizing receptors able to sense molecules of oligo- and polysaccharide nature and induce their aggregation. Among all the lectins, ficolins (FCN) (common domain fibrinogen) and collectins (common domain collagen) mannose-binding lectin (MBL), hepatic and renal collectins have exert unique functions by complexing with carbohydrate components of microbial wall. Formation of a compound complex microbial wall polysaccharides + collectin/ficolin + specific mannose-binding lectin-associated serine proteases (MARP) results in the complement system activation, inflammatory reaction and bacterium elimination. Such scenario is proceeded along the lectin pathway compared to the two other pathways called classical and alternative. Examining a role of the complement system and congenital protein defects in the pathogenesis of various diseases is of topical interest because inborn deficiency of the complement components comprises at least 5% out of total primary immunodeficiency rate, whereas the aspects of their prevalence and pathogenesis remain unexplored. Relevance of investigating the complement system components for diverse populations is tremendous, taking into consideration accumulated evidence regarding an important role of the lectin pathway in viral infections. Lectins, the main proteins in the lectin pathway of the complement activation, are encoded by polymorphic genes, wherein single nucleotide polymorphisms (SNPs) result in altered protein conformation and expression, which, in turn, affects functionality and potential to respond to a pathogen. The distribution of the lectin polymorphic gene frequencies and their haplotypes displays extremely marked population differences. According to analyzing available data, population SNP frequencies including those associated with inborn deficiencies for components of the lectin pathway have been currently scarce or unexplored. hence, here we review major lectins and their functions, their functionally significant SNPs in diverse populations and their pathogenetic importance for host defense functions.

Gene frequency distribution of ABO and Rh-D blood group alleles in Multan Division (Punjab), Pakistan

This study was conducted during 2017-19 with the objective to provide data of distribution of blood group of ABO and Rh(D) and gene frequency among the population of three districts; Multan, Lodhran and Khanewal (Multan Division), Pakistan. This information will provide basic facts and figures of region to geneticists, practitioners and blood transfusion programmers. From both genders total 440 subjects were selected from schools and colleges students, prisoners and factory workers etc. randomly in different regions of three districts. Blood samples of both genders were tested for blood groups ABO and Rh(D) factor with help of open slide test method. To observe agglutination, a drop of the antisera, anti-A, anti-B and anti-D were mixed with every blood sample and shook gently for 60 seconds. The predominant blood group was O with 36.48%, 42.57% and 42.08% presence in Multan, Lodhran and Khanewal respectively in all the Rh(D) positive subjects. In Rh(D) negative subjects, blood group A was found predominant with 5.40% in Multan district only amongst the three districts. In Multan the percentage of Rh(D) Positive was 90.55% and Rh(D) negative was 9.45%. In Lodhran, the percentage of Rh(D) positive was 93.25% and Rh(D) negative was 6.75%. in Khanewal, the percentage of Rh(D) positive was 91.22% and Rh(D) negative was 8.78%. Among the 3 districts studied, both Rh(D) positive and Rh(D) negative frequency of blood groups was O> A> B> AB> except Multan where blood group “A” was common among Rh(D) negative subjects. Keywords: ABO; Distribution; District; Division; Frequency; Population; Rh(D) http://dx.doi.org/10.19045/bspab.2021.100124

BoLA-DRB3 gene haplotypes show divergence in native Sudanese cattle from taurine and indicine breeds

Autochthonous Sudanese cattle breeds, namely Baggara for beef and Butana and Kenana for dairy, are characterized by their adaptive characteristics and high performance in hot and dry agro-ecosystems. They are thus used largely by nomadic and semi-nomadic pastoralists. We analyzed the diversity and genetic structure of the BoLA-DRB3 gene, a genetic locus linked to the immune response, for the indigenous cattle of Sudan and in the context of the global cattle repository. Blood samples (n = 225) were taken from three indigenous breeds (Baggara; n = 113, Butana; n = 60 and Kenana; n = 52) distributed across six regions of Sudan. Nucleotide sequences were genotyped using the sequence-based typing method. We describe 53 alleles, including seven novel alleles. Principal component analysis (PCA) of the protein pockets implicated in the antigen-binding function of the MHC complex revealed that pockets 4 and 9 (respectively) differentiate Kenana-Baggara and Kenana-Butana breeds from other breeds. Venn analysis of Sudanese, Southeast Asian, European and American cattle breeds with 115 alleles showed 14 were unique to Sudanese breeds. Gene frequency distributions of Baggara cattle showed an even distribution suggesting balancing selection, while the selection index (ω) revealed the presence of diversifying selection in several amino acid sites along the BoLA-DRB3 exon 2 of these native breeds. The results of several PCA were in agreement with clustering patterns observed on the neighbor joining (NJ) trees. These results provide insight into their high survival rate for different tropical diseases and their reproductive capacity in Sudan's harsh environment.

KCNJ11 rs5210 polymorphism and genetic susceptibility to nonalcoholic fatty liver disease and coronary artery disease

Objective To investigate the association of KCNJ11 rs5210 single nucleotide polymorphism with nonalcoholic fatty liver disease (NAFLD) and coronary artery disease (CAD) in the Chinese Han population in Qingdao, China. Methods A total of 246 patients with NAFLD who attended Qingdao Municipal Hospital from December 2018 to September 2019 were enrolled as NAFLD group, 201 patients with CAD were enrolled as CAD group, and 116 patients with NAFLD and CAD were enrolled as NAFLD+CAD group; 342 healthy individuals were enrolled as control group. Fasting venous blood samples were collected for biochemical analysis. Whole blood genomic DNA was extracted, and PCR was used to determine KCNJ11 rs5210 genotype. The chi-square test was used to analyze whether the distribution of KCNJ11 rs5210 gene frequencies met the Hardy-Weinberg equilibrium, in order to determine whether the tested samples could represent the population. The chi-square test was used to analyze the differences in sex and genotype/allele frequency between groups. A one-way analysis of variance was used for comparison of normally distributed continuous data between multiple groups, and the least significant difference t-test was used for further comparison between two groups; the Kruskal-Wallis H test was used for comparison of non-normally distributed continuous data between multiple groups, and the Bonferroni method was used for further comparison between two groups. The unconditional logistic regression model was used to calculate odds ratio (OR) and 95% confidence interval. Results Three genotypes (AA, GA, and GG) of KCNJ11 rs5210 were found by gene sequencing. There were no significant differences in rs5210 allele frequency and genotype distribution between the control group, the NAFLD group, the CAD group, and the NAFLD+CAD group (all P > 0.05), and there were still no significant differences after adjustment for sex, age, and body mass index (BMI) (all P > 0.05). For all subjects, the subjects with AA genotype had a higher level of alkaline phosphatase than those with GA genotype (P=0.048); in the NAFLD group, the patients with GA genotype had significantly higher BMI and total bilirubin than those with AA genotype (P=0.042 and 0.002). The unconditional logistic regression analysis showed that elevated BMI was associated with the risk of NAFLD (OR=1.35, P Conclusion There is no significant association between KCNJ11 rs5210 polymorphism and the risk of NAFLD and CAD in the Chinese Han population in Qingdao.

Genetic Polymorphism of Antigens in Twelve Rare Blood Group Systems of Li Nationality in Hainan Province

To explore the distribution characteristics of main antigen gene frequencies of Duffy,Diego,Kidd,Dombrock,MNS,Lutheran,Kell,Colton,Scianna,Yt,Knops and Indian in red blood cell blood group system of Li nationality in Hainan Province. Antigens in twelve rare blood group systems of 214 Li people in Hainan Province were genotyped and analyzed by polymerase chain reaction-sequence specific primers (PCR-SSP). The gene frequency of antigens in twelve rare blood group systems of 214 Li people in Hainan Province including: the gene frequency of Duffy blood group system: fya=0.9556，fyb=0.0444；the gene frequency of Diego blood group system: Dia=0.0678，Dib=0.9322；the gene frequency of Kidd blood group system：JKa=0.4533，JKb=0.5467；the gene frequency of Dombrock blood group system：DOa=0.1051，DOb=0.8949；the gene frequency of MNS blood group system：M=0.8131，N=0.1869,S=0.0327，s=0.9673，Mur+=0.5748，Mur-=0.4252；the gene frequency of Lutheran blood group system：AUa=0.8318，AUb=0.1682；the Kell, Colton, Scianna, Yt, Knops and Indian blood type systems showed a monomorph and the genotype was kk, coacoa, Sc1Sc1, YtaYta, KnaKna and InbInb. The observed and expected genotype values in twelve rare blood group systems of Li nationality in Hainan province were obeyed by the Hardy-Weinberg genitic rules. The difference between the observed and expectated values of the Kidd blood group system showed significant differences（χ2=17.1946，P=0.0002）. The genetic distribution and genetic status in twelve rare blood group systems of Li nationality in Hainan Province are relatively stable. The gene distribution of Duffy, Diego, Kidd, Drombrock, MNS and Lutheran blood group systems are polymorphic and show unique distribution characteristics compared with other regions and different nationalities. The gene frequency distribution of Kell、Colton、Scianna、Yt、Knops、Indian blood group systems are monomorphic.

Exploring people's thoughts about the causes of ethnic stereotypes.

Much research has shown that people tend to view genes in rather deterministic ways-often termed genetic essentialism. We explored how people would view the causes of ethnic stereotypes in contexts where human genetic variability was either emphasized or downplayed. In two studies with over 1600 participants we found that people viewed ethnic stereotypes to be more of a function of underlying genetics after they read an article describing how ancestry can be estimated by geographic distributions of gene frequencies than after reading an article describing how relatively homogeneous the human genome was or after reading a control essay. Moreover, people were more likely to attribute ethnic stereotypes to genes when they scored higher on a measure of genetic essentialism or when they had less knowledge about genes. Our understanding of stereotypes is a function of our understanding of genetics.

BDNF Gene Frequency Distribution in Li and Han Ethnic Groups in Hainan Province and Its Comparison with Other Countries and Regions

Objective: To explore the distribution characteristics of BDNF gene frequency in Li and Han nationalities in Hainan province. Methods: In June 2018-2019 and march to the people’s hospital of Hainan province health volunteers, 152 cases (Li 80, Han, 72), the application of polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method to detect the polymorphism of BDNF gene (rs6265), and compared with other countries and regions of ethnic comparison between BDNF gene frequency distribution. Results: No statistical difference was found in rs6265 genotype distribution of BDNF gene in Li and Han ethnic groups (P = 0.3358, P = 0.0892, P = 0.1549). Comparison of BDNF allele frequency between Li and other ethnic groups showed statistically significant differences with other ethnic groups in China and Europe (P = 0.0384, P = 0.0000), but not statistically significant differences with Japan (P = 0.1164). Conclusion: BDNF gene (rs6265) has polymorphism in both Li and Han ethnic groups in Hainan Province. Compared with ethnic groups in other countries and regions, the polymorphism distribution is ethnically different.

Escherichia coli in respiratory tract infections: Evaluating antimicrobial resistance and prevalence of fimA, neuC and iutA virulence genes

Optimising the treatment of respiratory tract infections (RTIs) caused by multidrug-resistant (MDR) Escherichia coli has become challenging with existing antibiotic options. E. coli pathogens have various virulence factors that determine their pathogenesis and antimicrobial resistance (AMR) mechanisms. The evidence of virulence genes harboured by E. coli in human RTIs yet remains unexplored. This study aimed to investigate the presence of fimA, neuC and iutA virulence genes encoding type 1 fimbriae, capsular polysaccharide, and siderophores respectively and AMR pattern of E. coli isolates conferring RTIs. Fifty E. coli isolates were confirmed by culture and biochemical tests. Virulence genes were identified by PCR method. AMR was assessed by disc diffusion method. The prevalence of fimA and neuC was 44%, and 24% respectively though no iutA was found. The frequency distribution of fimA and neuC genes was 42.8% and 25% in upper RTIs and 45.4% and 22.7% in lower RTIs respectively but had no statistically significant difference (fimA, p = 0.854; neuC, p = 0.851) when compared between URTIs and LRTIs. All (100%) E. coli isolates were MDR. Of 50 isolates, highest resistance was observed against amoxicillin (72%) followed by ampicillin (66%), cefixime (56%), sulfamethoxazole/trimethoprim (54%), ciprofloxacin (48%), nalidixic acid (32%) amikacin (28%) and gentamycin (24%). No E. coli including either fimA or neuC positive, was resistant to colistin, imipenem and meropenem antibiotics. This is the first report on virulence-associated genes and MDR among E. coli isolates recovered from RTIs in Bangladesh. Reduced susceptibility of MDR E. coli to most of the antibiotics in RTIs is alarming. Future research should confirm the association between AMR and virulence genes of E. coli isolates identified in RTIs to explain the pathogenesis of RTIs, mechanism of E. coli attaining MDR and antibiotic therapy in future.

Distribution of Blood Types and ABO Gene Frequencies in Egypt

Abstract ABO blood group was first discovered by Landsteiner in 1901. Currently, there are more than 30 blood group systems, but ABO system remains the most clinically important of all blood groups in transfusion practice. The ABO blood group system antibodies are naturally occurring without any exposure to RBCs through transfusion or pregnancy, unlike the other blood group systems. Method The study was performed on a total of 40,591 healthy blood donors in Egypt. ABO and Rh (D) groupings were performed on all donors’ samples. Data on the frequency of ABO and Rh(D) blood groups were reported in numbers and percentages. Results The study showed that type A is the most common blood group (35.12%) in Egypt followed by O at 31.94%, followed by B at 23.12%, while AB had the least prevalence at 9.74%; A &gt; O &gt; B &gt; AB. Our study showed that 91.78% of the donor population were Rh positive and 8.22% were Rh negative. The frequencies of the IA, IB, and IO alleles were calculated using the Hardy-Weinberg law of equilibrium. The calculated gene frequencies are 0.2537 for IA (p), 0.1812 for IB (q), and 0.5651 for IO (r). In the Egyptian population, O (r) records the highest value, followed by B (q) and A (p); O &gt; B &gt; A. The homozygous types were as follows: OO, 31.94%; AA, 6.43%; and BB, 3.28%. The heterozygous types were AO, 28.67%; BO, 20.47%; and AB, 9.78%. Conclusions The study provides the first accurate ABO gene frequency data as well as information on the distribution of ABO blood group Rh groups of various alleles in the Egyptian population. This information is very helpful in the effective management of the blood bank inventory. It will help transfusion services planning for future health challenge and improve blood transfusion practice.