Differences In Gene Frequencies Research Articles

UNRAVELING THE GENETIC AND BIOLOGICAL INTRICACIES OF ANESTHESIA FOR CHRONIC PAIN: A COMPREHENSIVE REVIEW OF COMT GENE VARIATIONS AND THEIR IMPACT ON TREATMENT EFFICACY ACROSS ETHNICITIES

Chronic pain management remains a significant challenge, with individual responses to anesthesia and analgesics varying widely due to genetic and biological factors. This review explores the influence of the catechol-O-methyltransferase (COMT) gene, particularly the Val158Met polymorphism, on pain sensitivity and opioid efficacy across different ethnicities. COMT variations play a crucial role in modulating pain perception and analgesic response, with Met allele carriers generally exhibiting higher pain sensitivity and lower opioid requirements. Ethnic differences in COMT gene frequencies further impact anesthesia efficacy, underscoring the importance of personalized pain management strategies. The review also discusses the potential of pharmacogenetic approaches, a beacon of hope for improving treatment outcomes. It highlights emerging technologies in genetic-based pain management, such as epigenetic modulation and gene editing.

ApoE gene polymorphisms and metals and their interactions with cognitive function

ObjectiveTo analyze the relationship between plasma metal elements, ApoE gene polymorphisms and the interaction between the two and impaired cognitive function in elderly population.MethodA stratified sample was drawn according to the age of the study population, and 911 subjects were included. Baseline information and health indicators were obtained, and cognitive function status was assessed by health examination, a general questionnaire and Mini-Mental Status Examination. Plasma metal elements were measured, and SNP typing was performed. Binary logistic regression was used to analyze the factors influencing cognitive function status and the association between the SNP genetic pattern of the ApoE gene and cognitive function.ResultsThe differences in gene frequencies and genotype frequencies of the ApoE rs7412 and rs7259620 genotype frequencies were statistically different between the cognitive impairment group and the control group (P < 0.05). statistically differences were found for the codominant model in rs7412-TT compared with the CC genotype (OR = 3.112 (1.159–8.359), P = 0.024) and rs7259620-AA compared with the GG genotype (OR = 1.588 (1.007–2.504), P = 0.047). Statistically differences were found in the recessive models rs7412-TT compared with (CC + CT) (OR = 2.979 (1.112–7.978), P = 0.030), rs7259620-AA compared with (GG + GA), and rs405509-GG compared with (TT + TG) (OR = 1.548(1.022–2.344), P = 0.039) all of which increased the risk of developing cognitive impairment. The differences in plasma Fe, Cu, and Rb concentrations between the case and control groups were significant (P < 0.05). The regression results showed that the plasma Cd concentrations in the Q1 range was a protective factor for cognitive function compared with Q4 (0.510 (0.291–0.892), P = 0.018). Furthermore, there was a multiplicative interaction between the codominant and recessive models for the Q2 concentrations of Cd and the rs7259620 loci, and the difference was significant, indicating increased risk of developing cognitive impairment (codominant model OR = 3.577 (1.496–8.555), P = 0.004, recessive model OR = 3.505 (1.479–8.307), P = 0.004). There was also a multiplicative interaction between Cd and the recessive model at the rs405509 loci, and the difference was significant, indicating increased risk of developing cognitive impairment (OR = 3.169 (1.400-7.175), P = 0.006).ConclusionThe ApoE rs7412, rs7259620 and rs405509 loci were associated with cognitive impairment in the elderly population, and there was an interaction between plasma metalloid Cd and the rs7259620 and rs405509 loci that increased the risk of cognitive impairment in the elderly population.

New Insights on Nucleotide Sequence Variants and mRNA Levels of Candidate Genes Assessing Resistance/Susceptibility to Mastitis in Holstein and Montbéliarde Dairy Cows

A major factor in the propagation of an infectious disease is host genetics. In this study, 180 dairy cows (90 of each breed: Holstein and Montbéliarde) were used. Each breed's tested dairy cows were divided into two groups of comparable size (45 cows each), mastitis-free and mastitis-affected groups. Each cow's jugular vein was punctured to obtain blood samples for DNA and RNA extraction. In the examined Holstein and Montbéliarde dairy cows, single nucleotide polymorphisms (SNPs) related with mastitis resistance/susceptibility were found in the RASGRP1, NFkB, CHL1, MARCH3, PDGFD, MAST3, EPS15L1, C1QTNF3, CD46, COX18, NEURL1, PPIE, and PTX3 genes. Chi-square analysis of identified SNPs revealed a significant difference in gene frequency between mastitic and healthy cows. Except for CHL1, mastitic dairy cows of two breeds had considerably higher mRNA levels of the examined genes than did healthy ones. Marker-assisted selection and monitoring of dairy cows' susceptibility to mastitis may be accomplished through the use of discovered SNPs and changes in the gene expression profile of the studied genes. These findings also point to a possible method for reducing mastitis in dairy cows through selective breeding of animals using genetic markers linked to an animal's ability to resist infection.

Killer Cell Immunoglobulin-like Receptor Profile in Acute Myeloid Leukemia with Heterogenous Cytogenetic Abnormalities and Its Association with Clinical Outcome

Introduction: Acute myeloid leukemia (AML) is associated with heterogeneous cytogenetic abnormalities which contributes towards biology and prognosis of the disease. Natural killer (NK) cells are the first line of defense against tumor cells. NK cells interact with AML cells via multiple receptors including killer cell immunoglobulin-like receptor (KIR). Evidence of susceptibility of AML cells to NK cells in the context of KIR-ligand mismatch NK immunotherapy has suggested a role of KIR repertoire in the development and clinical outcome of AML. The aim of this study is to determine the KIR profile of AML patients with different cytogenetic abnormalities and to evaluate its association with clinical outcome. Methods: Peripheral blood was collected from patients diagnosed with AML after informed consent in accordance with Declaration of Helsinki and approved from Ethical Review Board of Aga Khan University. Peripheral blood mononuclear cells were isolated and subjected to genomic DNA extraction. KIR genotyping was performed by polymerase chain reaction using sequence-specific primers (Vilches et al, Tissue Antigens 2007). Relationship between KIR loci in AML and healthy individuals was compared using chi-square test. Statistical analysis was performed using SPSS statistics (version 26) and a p value of <0.05 was considered statistically significant. Results: KIR genotyping was performed on 35 cases of AML with mean age of 39 years (range:16-58). Number of male and female patients was 25 and 10 respectively. We found 3 (8.57%) patients with AA KIR haplotype while 33 (91.42%) patients showed Bx haplotype (Figure 1). All the patients with AA haplotype harbored t(15;17) (q22; q21) which has a favorable prognosis while patients with Bx KIR haplotype showed cytogenetic abnormalities with favorable, intermediate, and adverse prognosis. The B-content score of patients with Bx KIR haplotype (n=32) was scored from 1 to 4 based on the total sum of B loci (Cooley et al, Blood 2010). We found that majority of cases had a B-content score of 2 (53.12%) while 7 (21.87%), 6(18.75%) and 2 (6.25%) patients had a score of 1, 3 and 4 respectively. Cytogenetic profile associated with favorable, intermediate, and adverse prognostic risk was found in all groups of patients irrespective of B-content score (Table 1). A standard induction treatment was given to 26 patients with Bx KIR haplotype. Around 67% of patients with B-content score of 1 to 3 showed complete remission (CR) while 100% of patients with B-content score of 4 showed CR after first induction chemotherapy. Estimated KIR gene frequency (gf) in these AML patients was compared with 78 normal individuals recruited from Aga Khan University in Karachi (Norman et al, Gene and Immunity 2002). We found no difference in gf of KIR locus 2DL3 (0.55 vs 0.70), 3DL1 (0.75 vs 0.56), 2DL2 (0.52 vs 0.42), 2DL5 (0.42 vs 0.53), 2DS1 (0.44 vs 0.31), 2DS2 (0.42 vs 0.31),2DS5 (0.28 vs 0.28) and 3DS1 (0.28 vs 0.34) in AML cases vs normal individuals. However, we found significant difference in gene frequency of KIR2DL1 (0.42 vs 0.68) [p=0.002], 2DS4 (0.75 vs 0.47) [p=0.007] and 2DS3 (0.07 vs 0.26) [p=0.002] in AML cases compared to healthy individuals. Conclusion: We found that the majority of patients diagnosed with AML harboring heterogenous cytogenetic abnormalities exhibit a Bx KIR haplotype with B-content score of 2. We did not find any specific cytogenetic abnormality to be associated with a particular B-content score. As we look at our data closely, it seems that it is the cytogenetic abnormality and not the B-content score that dictates the outcome after first induction chemotherapy. We found that patients with AML have decrease in gene frequency of 2DL1 (inhibitory KIR) and 2DS3 (activating KIR) while an increase in gene frequency of 2DS4 (activating KIR) compared to healthy individuals. Further studies are required to determine if variable gene frequency of these 3 KIR loci contributes towards the development of AML. Figure 1View largeDownload PPTFigure 1View largeDownload PPT Close modal

Prize‐winning abstracts from BSACI/WAO 2022 meeting

Prize‐winning abstracts from <scp>BSACI</scp>/<scp>WAO</scp> 2022 meeting

Antimicrobial Resistance Creates Threat to Chimpanzee Health and Conservation in the Wild.

Infectious disease is recognized as the greatest threat to the endangered chimpanzees made famous by the groundbreaking work of Dr. Jane Goodall at Gombe National Park (GNP), Tanzania. The permeable boundary of this small protected area allows for regular wildlife–human and wildlife–domestic animal overlap, which may facilitate cross-species transmission of pathogens and antimicrobial resistance. Few studies have examined the prevalence of antimicrobial resistance in wild ape populations. We used molecular techniques to investigate the presence of genes conferring resistance to sulfonamides (often used to treat diarrheal illness in human settings in this region) and tetracycline (used in the past—though much less so now) in fecal specimens from humans, domestic animals, chimpanzees, and baboons in and around GNP. We also tested stream water used by these groups. Sulfonamide resistance was common in humans (74%), non-human primates (43%), and domestic animals (17%). Tetracycline resistance was less common in all groups: humans (14%), non-human primates (3%), and domestic animals (6%). Sul resistance genes were detected from 4/22 (18%) of streams sampled. Differences in sul gene frequencies did not vary by location in humans nor in chimpanzees.

SLCO1B1 &amp;amp; ApoE Gene Polymorphism Analysis of the Li People in Hainan Island and Its Clinical Significance

Objective: To analyze the distribution characteristics and clinical significance of SLCO1B1 and ApoE gene polymorphisms of the Li people in Hainan Island. Method: Selecting 502 high school students of the Li people from five cities and counties in Hainan Island (namely, Qiongzhong County, Dongfang City, Ledong County, Baoting County and Wuzhishan City) as research subjects in September, 2019; Applying PCR-fluorescence probe method to detect SLCO1B1 and ApoE genotypes of the Li people in Hainan Island, and statistically analyzing the distribution characteristics of gene frequency and the distribution differences in gene polymorphisms between different genders. Meanwhile, detecting the SLCO1B1 and ApoE gene of 527 people from the Han people in five regions mentioned before, so as to analyze the distribution differences of the SLCO1B1 and ApoE gene between the Han people and the Li people. Results: The frequency of each genotype of SLCO1B1 in the Li people in Hainan Island is: *1a/*1a 6.77%, *1a/*1b 27.09%, *1b/1b 41.63%, *1a/*5 0.00%, *1a/*15 4.78%, *1b/15 16.93%., *5/*5 0.00%, *5/*15 0.00%, *15/*15 2.79%; And that of ApoE is: e2/e2 0.40%, e2/e3 17.73%, e2/e4 2.39%, e3/e3 65.54%, e3/e4 12.55%, e4/e4 1.39%. There is no significant difference (P > 0.05) in other genotypes except weak metabolic genotypes (*5/*5, *5/*15 and *15/*15) between the Han and the Li peoples. Conclusion: The gene frequency of SLCO1B1 weak metabolic genotype is dramatically higher in the Li people of Hainan Island than that of the Han people in both Hainan Island and Central and South China, but there is no significant difference in ApoE gene frequency among them. Therefore, clinicians should adjust the dosage of statins and select the types of lipid-lowering drugs according to the differences in patients’ genotypes, and strengthen the management of patients with ApoE4 risk gene.

The Genome Segments of Bluetongue Virus Differ in Copy Number in a Host-Specific Manner.

Genome segmentation is mainly thought to facilitate reassortment. Here, we show that segmentation can also allow differences in segment abundance in populations of bluetongue virus (BTV). BTV has a genome consisting in 10 segments, and its cycle primarily involves periodic alternation between ruminants and Culicoides biting midges. We have developed a reverse transcription-quantitative PCR (RT-qPCR) approach to quantify each segment in wild BTV populations sampled in both ruminants and midges during an epizootic. Segment frequencies deviated from equimolarity in all hosts. Interestingly, segment frequencies were reproducible and distinct between ruminants and biting midges. Beyond a putative regulatory role in virus expression, this phenomenon could lead to different evolution rates between segments.IMPORTANCE The variation in viral gene frequencies remains a largely unexplored aspect of within-host genetics. This phenomenon is often considered to be specific to multipartite viruses. Multipartite viruses have segmented genomes, but in contrast to segmented viruses, their segments are each encapsidated alone in a virion. A main hypothesis explaining the evolution of multipartism is that, compared to segmented viruses, it facilitates the regulation of segment abundancy, and the genes the segments carry, within a host. These differences in gene frequencies could allow for expression regulation. Here, we show that wild populations of a segmented virus, bluetongue virus (BTV), also present unequal segment frequencies. BTV cycles between ruminants and Culicoides biting midges. As expected from a role in expression regulation, segment frequencies tended to show specific values that differed between ruminants and midges. Our results expand previous knowledge on gene frequency variation and call for studies on its role and conservation beyond multipartite viruses.

KIR and HLA-C genes in male infertility

PurposeApproximately 50% of men reporting to clinics for assisted reproduction have abnormal sperm parameters; we therefore considered whether they differ from fertile males in terms of the frequency of KIR and HLA-C genes, suggesting the involvement of NK cells and some T cells in the inflammatory reaction that can occur in the testes, vas deferens, or epididymis.MethodWe tested a total of 1064 men: 445 of them were patients who, together with their female partners, participated in in vitro fertilization (IVF), 298 men whose female partners suffered from recurrent spontaneous abortion. Three hundred twenty-one fertile men constituted the control group. KIRs were genotyped using KIR Ready Gene kits and HLA-C by PCR-SSP methods.ResultsWe found differences in KIR gene frequencies between men who became fathers via natural conception and men who participated in in vitro fertilization for KIR2DL2 (p/pcorr. = 0.0015/0.035, OR = 1.61), KIR2DL5 gr.2 (p/pcorr. = 0.0023/0.05, OR = 1.64), KIR2DS2 (p/pcorr. = 0.0019/0.044, OR = 1.59), and KIR2DS3 (p/pcorr. = 0.0016/0.037, OR = 1.67). KIRs in Cen AA region were significantly overrepresented in fertile males than in IVF males (p/pcorr. = 0.0076/0.03, OR = 0.67), whereas Cen AB + Cen BB frequency was higher in IVF males than in fertile males (p/pcorr. = 0.0076/0.03, OR = 1.50). We also observed a limited association in KIR-HLA-C combinations.ConclusionFertile men differ in profile of KIR genes and KIR-HLA-C combinations from men participating in IVF.

Pharmacogenomics of breast cancer: highlighting CYP2D6 and tamoxifen.

To review recent pharmacogenomics studies on breast cancer patients undergoing tamoxifen therapy, highlighting how our knowledge on cytochrome P450 2D6 (CYP2D6) can help to guide the development of adjuvant therapies for these patients. A comprehensive literature search was conducted. Articles reporting findings pertaining to the effect of CYP2D6 on the therapeutic efficacy of tamoxifen, those reporting how targeting CYP2D6 could inform tamoxifen-based therapy development, and those on the tamoxifen effects on cell lines and animal models were included in the review. With CYP2D6 being the primary enzyme for tamoxifen metabolism, single-nucleotide polymorphisms (SNPs) in this gene were one of the determinants in the rate of tamoxifen metabolism, thereby potentially having an effect on the efficacy of tamoxifen-based therapies. Our review indicates the potential effectiveness of targeting these SNPs, including those for the CYP2D6*10 allele (c. 100C > T), in modifying the level of tamoxifen metabolism. These findings suggest the importance of pharmacogenomics research in our understanding of the efficacy of adjuvant therapies. However, the involvement of multiple enzymes in tamoxifen metabolism, dietary factors, ethnic differences in gene frequencies, and patients' compliance to tamoxifen therapies in studies do present challenges in pharmacogenomics research. Pharmacogenomics could play important roles in mediating the advancement of tamoxifen-based adjuvant therapies. Research efforts should be directed towards the exploration of further SNPs of CYP2D6 that affect tamoxifen metabolism, as well as epigenetic changes in CYP2D6, enabling the design of precision medicine and confirming clinical validity in the use of pharmacogenomics for tamoxifen.

2602. Genetic Basis of Staphylococcus aureus Virulence

BackgroundAlthough multiple different virulence factors have been identified for Staphylococcus aureus, there is limited information on genetic variation present between different strains of S. aureus in the clinical setting. To better define whether differing virulence factors could contribute to differing clinical manifestations of S. aureus infections we undertook a comparison of the frequency of virulence and antibiotic resistance genes present in S. aureus isolates from different clinical sites.MethodsWhole-genome sequencing was performed on a convenience sample of S. aureus isolates from clinical or surveillance cultures obtained at an academic medical center over a 27-month period. Genomic assemblies were generated and annotated to define protein-coding regions. The prevalence of 28 genes previously defined as being associated with S. aureus virulence or antimicrobial resistance, including MSCRAMM genes, was then analyzed in relation to nine specific culture sources including only a single isolate from each culture source per patient using a likelihood ratio χ 2 analysis.ResultsThere were 1286 S. aureus isolates with draft assemblies and annotations, and there was a statistically significant (P < 0.01) difference in gene frequencies between culture sources for 18 genes that included 13 of 19 virulence factors, 4 of 7 antibiotic resistance genes and 1 of 2 MSCRAMM genes. The most notable variation was seen for the presence of the sec, sep, entB, lukS, lufK, fosB, mecA, and ermA genes (all with P < 0.0001). There were also significant variations in overall gene frequency patterns between isolates from wound, blood, and respiratory isolates (P < 0.0001), as well as significant differences in the frequency of cna and hlY genes between surveillance and clinical isolates (P < 0.0001).ConclusionThis study demonstrates a difference in the prevalence of virulence and antibiotic resistance genes in S. aureus isolates based on the culture source. As the culture location can be considered a surrogate for different types of infections (such as bacteremia, pneumonia, urinary tract infections) these differences in gene frequency may contribute to variation in the clinical manifestations of infections by differing S. aureus strains.Disclosures All authors: No reported disclosures.

The relevance of HIF1A gene polymorphisms and primary hypertensive left ventricular hypertrophy in Chinese Han population.

To investigate the effect of gene polymorphisms in hypoxia-inducible factor 1α (HIF-1α) in left ventricular hypertrophy of hypertensive patients. A total of 583 hypertensive patients were divided into two groups, with left ventricular hypertrophy (LVH (+), 198 cases) and without left ventricular hypertrophy (LVH (-), 385 cases). Polymerase Chain Reaction restriction fragment length polymorphism was used to detect the single nucleotide gene polymorphisms rs11549465, rs11549467 and rs1957757 in HIF-1α. The distribution differences of gene frequencies for rs11549465, rs11549467 and rs1957757 in HIF1A single nucleotide gene polymorphisms for LVH (+) and LVH (-) were statistically significant (p<0.05). The T allele of rs11549465 loci and the G allele of rs11549467 loci increased the risk of LVH, related to the increased plasma expression of HIF-1α (p<0.05). Gene polymorphism of HIF-1α were related to primary hypertensive left ventricular hypertrophy, and the expression of rs11549467 correlated with the increasing concentration of plasma HIF-1α.

The association of HLA/KIR genes with non-small cell lung cancer (adenocarcinoma) in a Han Chinese population.

The host immune system plays a crucial role in the surveillance, recognition and elimination of tumor cells. Recent studies found that Human lymphocyte antigen class I (HLA I) genes, Killer cell immunoglobulin-like receptor (KIR) genes and HLA/KIR combinations play a role in the defense against tumor cells. To evaluated the associations between HLA I genes, KIR genes and HLA/KIR combinations and non-small cell lung cancer (NSCLC) in a Chinese Han population, a total of 229 patients with NSCLC (adenocarcinoma) and 217 healthy individuals were studied. Our results showed that the HLA-C*08:01 allele occurred at a significantly higher frequency in the NSCLCs compared with the controls (P=0.034). The HLA haplotype frequencies bearing HLA-A, -B, and -C loci between the NSCLC and control groups were not different (P>0.05). And there were no differences in the KIR gene, genotype and haplotype frequencies between the NSCLC and control groups (P>0.05). Also, there were no differences between the HLA/KIR combinations in the KIR3D genes and HLA-A3/A11, HLA-Bw4 ligands and KIR2D genes and HLA-C1/C2 ligands between the NSCLC and control groups (P>0.05). Our results indicate that the HLA-C*08:01 allele could be a risk factor for NSCLC (adenocarcinoma) in the Chinese Han population (OR=2.395; 95% CI: 1.359-4.221).

Correlation between Serotonin Transporter Promoter Gene Polymorphism and PTSD in Children

Objective: To study the association between post-traumatic stress disorder (PTSD) and serotonin transporter promoter (5-HTTLPR) gene polymorphism in Han children in Hainan; to explore the genetic mechanism of PTSD in children. Methods: 50 patients with post-traumatic stress disorder and healthy children in Han nationality in Hainan were selected. Detection of 5-HTTLPR gene polymorphism by polymerase chain reaction (PCR) and amplified fragment length polymorphism, the genotype and allele frequencies were analyzed using a case-control association analysis method. Results: There were 4, 14 and 32 cases of LL, SL and SS in the post-traumatic stress disorder group of Hainan Han children, and 13, 20 and 17 cases in the control group. From the perspective of gene frequency, the L gene of post-traumatic stress disorder appeared 22.0%, and S appeared 78.0%. In the control group, L appeared 46.0%, and S appeared 54.0%. There were significant differences in genotype and gene frequency (P < 0.01). Conclusion: The 5-HTTLPR gene polymorphism in Hainan Han children may be associated with post-traumatic stress disorder.

Frequency of frontotemporal dementia gene variants in C9ORF72, MAPT, and GRN in academic versus commercial laboratory cohorts.

Frontotemporal lobar degeneration (FTLD) is a leading cause of dementia, and elucidating its genetic underpinnings is critical. FTLD research centers typically recruit patient cohorts that are limited by the center's specialty and the ways in which its geographic location affects the ethnic makeup of research participants. Novel sources of data are needed to get population estimates of the contribution of variants in known FTLD-associated genes. We compared FLTD-associated genetic variants in microtubule-associated protein tau (MAPT), progranulin (GRN), and chromosome nine open reading frame 72 (C9ORF72) from an academic research cohort and a commercial clinical genetics laboratory. Pathogenicity was assessed using guidelines of the American College of Medical Genetics and Genomics and a rule-based DNA variant assessment system. We conducted chart reviews on patients with novel or rare disease-associated variants. A total of 387 cases with FTLD-associated variants from the commercial (n=2,082) and 78 cases from the academic cohort (n=2,089) were included for analysis. In the academic cohort, the most frequent pathogenic variants were C9ORF72 expansions (63%, n=49), followed by GRN (26%, n=20) and MAPT (11%, n=9). Each gene's contribution to disease was similarly ranked in the commercial laboratory but differed in magnitude: C9ORF72 (89%, n=345), GRN (6%, n=24), and MAPT (5%, n=19). Of the 37 unique GRN/MAPT variants identified, only six were found in both cohorts. Clinicopathological data from patients in the academic cohort strengthened classification of two novel GRN variant as pathogenic (p.Pro166Leufs*2, p.Gln406*) and one GRN variant of unknown significance as a possible rare risk variant (p.Cys139Arg). Differences in gene frequencies and identification of unique pathogenic alleles in each cohort demonstrate the importance of data sharing between academia and community laboratories. Using shared data sources with well-characterized clinical phenotypes for individual variants can enhance interpretation of variant pathogenicity and inform clinical management of at-risk patients and families.

Genotypic analysis of secreted aspartyl proteinases in vaginal Candida albicans isolates

ABSTRACT Introduction: Candida albicans is the most common etiologic agent of fungal vaginitis. These yeasts produce secreted aspartyl proteinases encoded by a family of 10 genes (SAP1-10). Objective: The purpose of this study was to analyze the presence of genes SAP1-7 in vulvovaginal C. albicans. Materials and method: The study included 26 C. albicans vaginal isolates. Detection of aspartyl proteases genes (SAP1-7) was performed by polymerase chain reaction (PCR). Results: The most frequent gene in C. albicans isolated from colonization was SAP6 (93.33%), and from infection, SAP7 (100%). We observed a statistical difference (p = 0.049) in SAP1 gene frequency between isolates from vulvovaginal colonization and infection. Conclusion: High frequency of SAP genes was observed in vulvovaginal C. albicans. The results suggest SAP1 participation in vulvovaginal candidiasis infection.

Comparison of gene frequencies of short tandem repeats loci on Y Chromosome between offenders with initiative-aggressive behavior and impulsive-aggressive behavior

Objective To explore the distributional differences of the gene frequencies of 22 short tandem repeats loci on Y Chromosome(Y-STRs) between offenders with Initiative-aggressive behavior and impulsive-aggressive behavior, and to probe into the genetic factors of initiative-aggressive behavior and impulsive-aggressive behavior. Methods Biological samples of 271 offenders with initiative-aggressive behavior and 271 offenders with impulsive-aggressive behavior were collected and PCR compound amplification was carried out with the aid of PowerPlex Y23 System. Then the PCR products were subjected to electrophoresis and gene detection with AB3500xL gene analysis system so as to calculate and compare the alleles and haplotypes of 22 Y-STRs gene frequency in the two groups. Results The distribution of allele frequency were significantly difference in locus DYS437(P=0.022)between two groups, not in the other 21 Y-STRs loci(all P>0.05). Univarite analysis showed significant differences at allelle 14 in locus DYS437 between both groups(initiative-aggressive behavior group: 69.37%; impulsive-aggressive behavior group: 58.67%; P=0.009). Conclusion Loci DYS437 may be associated with aggressive behavior. In the group of aggressive behavior, allelle 14 on locus DYS437 may be the susceptible factor of initiative-aggressive behavior and the resistant factor of impulsive-aggressive. Key words: Initiative-aggressive behavior; Impulsive-aggressive; Human Y chromosome; Short tandem repeats(STRs); Genetic polymorphism

The influence of KIR gene presence/absence polymorphisms on the development of periodontal disease in smokers and non-smokers.

IntroductionPeriodontal diseases are highly prevalent inflammatory, multifactorial diseases. Smoking is one of the most important environmental risk factors for the development and severity of periodontal disease. Killer cell immunoglobulin-like receptors (KIRs) are members of the immunoglobulin (Ig) superfamily and play an essential role in the regulation of NK cell activity, allowing natural killer (NK) cells to sense and respond to human leukocyte antigen (HLA) class I. The aim of this study was to evaluate the influence of KIR gene presence/absence polymorphisms on the development of periodontal disease in smokers and non-smokers.Material and methodsThis study enrolled 400 Caucasian subjects (age range 25-69 years) from the West Pomeranian region of Poland. The subjects were categorized into four subgroups (smoking and non-smoking patients with periodontal disease; smoking and non-smoking subjects without periodontal disease – control subjects).ResultsThe differences of KIR gene frequencies between non-smoking patients and non-smoking control subjects as well as smoking patients and control subjects were not statistically significant. In multivariate regression analysis advanced age of patients and smoking were independent factors associated with increased frequency of periodontal disease.ConclusionsThe results of this study suggest that the main factor associated with increased risk of periodontal disease is smoking, whereas KIR presence/absence polymorphism is not a significant factor involved in the pathogenesis of periodontal disease.

Platelet Immunology in China: Research and Clinical Applications.

Immunization against human platelet alloantigens (HPAs) is associated with a number of clinical complications. The detection and identification of clinically relevant platelet antibodies are important for the diagnosis and management of patients affected with immune-mediated thrombocytopenias. Human platelet alloantigen frequencies and the characteristics of antiplatelet antibodies vary widely between ethnic groups. Since 2008, the importance of platelet immunology in the field of transfusion medicine has gained greater recognition by clinical laboratories in China. Laboratories in China have established and improved methods for platelet antibody detection and HPA genotyping techniques, which are used for the diagnosis of alloimmune platelet disorders in clinic and research environments. Research has revealed the frequencies of HPA alleles in different Chinese ethnic groups and compared the differences in HPA gene frequencies between the Chinese Han and other ethnic groups of the world. Production of anti-CD36 isoantibodies is an important risk factor for immune-mediated thrombocytopenia in the Chinese population. Advances in research and clinical application of platelet immunology have significantly improved the clinical diagnosis, treatment including transfusion support, and prevention of alloimmune platelet disorders in the Chinese population.

Efectos genéticos y heterosis en poblaciones parentales y poblaciones derivadas de maíz (Zea mays L)

This study with the Gardner-Eberhart model (1966) involved eight maize parental populations and their related populations. The objectives were to estimate the cumulative gene effects (additive, dominance and heterotic) which could The justify support of a maize hybrid programo The grain yield inter-varietal dominance effects accounted for 55.54% of the generation means, suggesting large genetic variability within populations. Heterotic effects accounted for 12.11 %, indicating little difference in gene frequency for loci controlling grain yield. Plant height followed the same pattero as grain yield, since dominance effects were the most important. However, homozygote loci (aj) were important in explaining genetic variability for days to bloom and number of ears. For grain yield, the cross Pop. 32 x Pop. 21 maximized the heterotic effects. Population 21 exhibited a high average heterosis, so we suspect that its, combination with Popo 32 and CN(S)-C3, among others, would be a great genetic material for a Reciprocal Recurrent Selection Programo