Homozygous Recessive Genotype Research Articles

Polymorphisms in the genes encoding RLR and TLR3 and CMV DNAemia in subjects coinfected with human immunodeficiency virus and cytomegalovirus

Cytomegalovirus (CMV) is a pathogen that is common worldwide and is often present in individuals infected with human immunodeficiency virus (HIV). Pattern recognition receptors (PRRs) are host sensors that activate the immune response against infectious agents. However, it is unclear whether PRR single-nucleotide polymorphisms (SNPs) are associated with the occurrence of CMV DNAemia in subjects coinfected with HIV and CMV. HIV/CMV-coinfected patients with and without CMV DNAemia were recruited for this study. The DDX58 rs10813831 and IFIH1 (rs3747517 and rs1990760) polymorphisms were genotyped using the TaqMan Allelic Discrimination Assay, whereas the DDX58 rs12006123 and TLR3 (rs3775291 and rs3775296) SNPs were analyzed using a polymerase chain reaction restriction fragment length polymorphism (PCR-RFLP) assay. A mutation present in at least one allele of the DDX58 rs12006123 SNP occurred at least two times more frequently in HIV/CMV-coinfected patients with CMV DNAemia than in coinfected subjects without CMV DNAemia (OR, 2.50; 95% CI, 1.33–4.68; p = 0.004, in the dominant model). A higher level of CMV DNAemia was observed in subjects who had the heterozygous (GA) or homozygous recessive (AA) genotype for the DDX58 rs12006123 SNP compared with those who had the wild-type (GG) genotype (p = 0.0003). Moreover, in subjects with a mutation detected in at least one allele of the DDX58 rs12006123 SNP, a lower serum IFN-β concentration was found compared with those who had a wild-type (GG) genotype for this polymorphism (p = 0.024). The DDX58 rs12006123 SNP is associated with CMV DNAemia in HIV/CMV-coinfected patients.

Genetic Variations in TrkB.T1 Isoform and Their Association With Somatic and Psychological Symptoms in Individuals With IBS

Irritable bowel syndrome (IBS), a disorder of gut-brain interaction, is often comorbid with somatic pain and psychological disorders. Dysregulated signaling of brain-derived neurotrophic factor (BDNF) and its receptor, tropomyosin-related kinase B (TrkB), has been implicated in somatic-psychological symptoms in individuals with IBS. We investigated the association of 10 single-nucleotide polymorphisms (SNPs) in the regulatory 3′ untranslated region of neurotrophic receptor tyrosine kinase-2 (NTRK2) kinase domain-deficient truncated isoform (TrkB.T1) and BDNF Val66Met SNP with somatic and psychological symptoms and quality-of-life (QoL) in a cohort from the United States (IBS, n = 464; healthy controls, n = 156). We found that the homozygous recessive genotype (G/G) of rs2013566 in individuals with IBS is associated with worsened somatic symptoms, including headache, back pain, joint pain, muscle pain, and somatization as well as diminished sleep quality, energy level, and overall QoL. Validation using United Kingdom BioBank data confirmed the association of rs2013566 with an increased likelihood of headache. Several SNPs (rs1627784, rs1624327, and rs1147198) showed significant associations with muscle pain in our U.S. cohort. These 4 SNPs are predominantly located in H3K4Me1-enriched regions, suggesting their enhancer and/or transcription regulation potential. Our findings suggest that genetic variation within the 3′ untranslated region region of the TrkB.T1 isoform may contribute to comorbid conditions in individuals with IBS, resulting in a spectrum of somatic and psychological symptoms impacting their QoL. These findings advance our understanding of the genetic interaction between BDNF/TrkB pathways and somatic-psychological symptoms in IBS, highlighting the importance of further exploring this interaction for potential clinical applications. PerspectiveThis study aims to understand the genetic effects on IBS-related symptoms across somatic, psychological, and quality-of-life (QoL) domains, validated by United Kingdom BioBank data. The rs2013566 homozygous recessive genotype correlates with worsened somatic symptoms and reduced QoL, emphasizing its clinical significance.

Multiplex fluorescent amplification-refractory mutation system PCR method for the detection of 10 genetic defects in Holstein cattle and its comparison with the KASP genotyping assay.

The common deleterious genetic defects in Holstein cattle include haplotypes 1-6 (HH1-HH6), haplotypes for cholesterol deficiency (HCD), bovine leukocyte adhesion deficiency (BLAD), complex vertebral malformation (CVM) and brachyspina syndrome (BS). Recessive inheritance patterns of these genetic defects permit the carriers to function normally, but homozygous recessive genotypes cause embryo loss or neonatal death. Therefore, rapid detection of the carriers is essential to manage these genetic defects. This study was conducted to develop a single-tube multiplex fluorescent amplification-refractory mutation system (mf-ARMS) PCR method for efficient genotyping of these 10 genetic defects and to compare its efficiency with the kompetitive allele specific PCR (KASP) genotyping assay. The mf-ARMS PCR method introduced 10 sets of tri-primers optimized with additional mismatches in the 3' end of wild and mutant-specific primers, size differentiation between wild and mutant-specific primers, fluorescent labeling of universal primers, adjustment of annealing temperatures and optimization of primer concentrations. The genotyping of 484 Holstein cows resulted in 16.12% carriers with at least one genetic defect, while no homozygous recessive genotype was detected. This study found carrier frequencies ranging from 0.0% (HH6) to 3.72% (HH3) for individual defects. The mf-ARMS PCR method demonstrated improved detection, time and cost efficiency compared with the KASP method for these defects. Therefore, the application of mf-ARMS PCR for genotyping Holstein cattle is anticipated to decrease the frequency of lethal alleles and limit the transmission of these genetic defects.

A Single Nucleotide Polymorphism Unique to the Galanthum-CMS of Onion

Different sources of cytoplasmic male sterility (CMS) are used to produce hybrid onion seed. The most commonly used source of CMS in onion is S cytoplasm (S-CMS), and male fertility is restored by a dominant allele at the nuclear male-fertility restoration locus (Ms). Male-sterile plants possess S cytoplasm and have the homozygous recessive genotype at Ms; seed propagation of male-sterile plants is possible by crossing with a male-fertile maintainer plant or inbred possessing normal (N) male-fertile cytoplasm and the homozygous recessive at the Ms locus (N msms). Some commercially important onion populations possess S-CMS and high frequencies of the dominant Ms allele, eliminating the possibility to develop maintainer lines. An alloplasmic source of CMS (Gal-CMS) was developed by backcrossing the cytoplasm of Allium galanthum into the nuclear background of onion. The advantage of Gal-CMS is that the dominant allele at Ms does not restore male fertility, making this source of CMS useful for the development of male-sterile lines from populations possessing S cytoplasm and dominant allele(s) at Ms. In this research, a single nucleotide polymorphism unique to the cytoplasms of A. galanthum and Gal-CMS was identified, useful to distinguish Gal-CMS from other onion cytoplasms.

Association of Protein Tyrosine Phosphatase Receptor Type D and Serine Racemase Genetic Variants with Type 2 Diabetes in Malaysian Indians.

Type 2 diabetes (T2D) candidate genes, protein tyrosine phosphatase receptor type D (PTPRD), and serine racemase (SRR) were suggested by a genome-wide association study (GWAS) in the Chinese population. Association studies have been replicated among East Asian populations. The association of PTPRD and SRR genetic variants with T2D in Southeast Asian populations still needs to be studied. This study aimed to investigate the association of PTPRD and SSR genetic variants with T2D in Malaysian Indian subjects. The single nucleotide polymorphisms (SNPs) of PTPRD (rs649891 and rs17584499) and SRR (rs4523957, rs391300, and rs8081273) were genotyped in 397 T2D and 285 normal Malaysian Indian subjects. The homozygous dominant genotype of rs17584499 is frequent in diabetic patients (56.5%) compared to normal subjects (47.3%). In contrast, the homozygous recessive genotype of rs8081273 is more frequent among normal subjects (12.5%) than diabetic patients (5.6%). The dominant genetic model showed that PTPRD rs17584499 (CC) is a risk factor for T2D (OR = 1.42, P = 0.029), whereas the recessive genetic model showed that SRS SNP rs8081273 was protective for T2D (OR = 0.42, P = 0.003). This study confirmed the association of PTPRD rs17584499 genetic variations with T2D in Malaysian Indians. While the SRR rs8081273 (TT) genotype showed protection against T2D, more investigation in different populations is required to confirm this protection.

Analysis of associations between the TLR3 SNPs rs3775291 and rs3775290 and COVID-19 in a cohort of professionals of Belém-PA, Brazil.

The objective of this article was to verify associations between the SNPs rs3775291 (Cytosine [C]>Thymine [T]) and rs3775290 (C>T) of TLR3 in professionals from Health Institutions (HI) who worked during the first pandemic wave and COVID-19. A case-control study was carried out with workers from HI in Belém-PA, Brazil, divided into symptomatology groups (Asymptomatic-AS, n=91; and Symptomatic-SI, n=121), and severity groups, classified by Chest CT scan (symptomatic with lung involvement - SCP, n=34; symptomatic without lung involvement - SSP, n=8). Genotyping was performed by Sanger sequencing and statistical analysis was performed using the SPSS program. In the analysis of SNP rs3775291, the homozygous recessive genotype (T/T) was not found and the frequency of the mutant allele (T) was less than 2% in the cohort. For the rs3775290 SNP, the frequency of the mutant allele (T) was greater than 42% in the cohort. No significant associations were found for these SNPs in this cohort (N= 212 individuals). The scientific community and physicians can use these facts to find new methods of managing COVID-19.

Analysis of Epidemiological Factors and SNP rs3804100 of TLR2 for COVID-19 in a Cohort of Professionals Who Worked in the First Pandemic Wave in Belém-PA, Brazil.

COVID-19 is an infectious disease caused by coronavirus 2 of the severe acute syndrome (SARS-CoV-2). Single nucleotide polymorphisms (SNPs) in genes, such as TLR2, responsible for an effective human immune response, can change the course of infection. The objective of this article was to verify associations between epidemiological factors and TLR2 SNP rs3804100 (Thymine [T] > Cytosine [C]) in professionals from Health Institutions (HI) who worked during the first pandemic wave and COVID-19. A case-control study was conducted with Belém-PA HI workers (Northern Brazil), divided into symptomatology groups (Asymptomatic-AS; n = 91; and Symptomatic-SI; n = 123); and severity groups classified by Chest Computerized Tomography data (symptomatic with pulmonary involvement-SCP; n = 35; symptomatic without pulmonary involvement-SSP; n = 8). Genotyping was performed by Sanger sequencing, and Statistical Analysis was conducted through the SPSS program. Bioinformatics servers predicted the biological functions of the TLR2 SNP. There were associations between the presence of comorbidities and poor prognosis of COVID-19 (especially between symptomatology and severity of COVID-19 and overweight and obesity) and between the sickness in family members and kinship (related to blood relatives). The homozygous recessive (C/C) genotype was not found, and the frequency of the mutant allele (C) was less than 10% in the cohort. No significant associations were found for this SNP in this cohort. The presence of SNP was indicated to be benign and causes a decrease in the stability of the TLR2 protein. These data can help the scientific community and medicine find new forms of COVID-19 containment.

Association of MTHFR gene polymorphism in preeclampsia and recurrent pregnancy loss: A case-control study from South India

BackgroundPreeclampsia (PE) and recurrent pregnancy loss (RPL), both of which affect maternal and reproductive health, are obstetrical-gynecological issues. Pregnancies that meet one or more of these criteria are considered high risk. This study aims to examine and understand how specific methylation within the MTHFR gene (rs 1,801,131 and rs 1,801,133) polymorphisms may contribute to preeclampsia and recurrent miscarriages in the South Indian population. MethodsA combination of recurrent pregnancy loss and preeclampsia were taken as a case (146), and healthy controls (152) were enrolled in the study. 5 ml of human blood was taken after getting consent from the participants. The DNA was isolated from the peripheral blood lymphocytes and genotyped using ARMS-PCR. ResultThe findings of this study suggest that the MTHFR gene (rs1801131) is not associated with PE and RPL risk. A significant association has been observed between rs1801133 and the derived allele T (OR = 0.6, 95% CI -0.4-0.8, p = 0.001). Furthermore, a p-value of 0.01 was calculated for the homozygous recessive genotype TT (OR = 0.5, 95% CI - 0.29-0.1). ConclusionsThe results of this study suggest that preeclampsia and recurrent pregnancies are more common among South Indian women who carry a variant of the MTHFR gene 1,801,133. According to the conclusion, higher sample sizes and a wider study are necessary to verify these findings. More diverse and valuable information can be obtained through large sample sizes and combined studies, allowing the results to be applied to a wide population.

Genome-Wide Association Study of Age at First Calving in U.S. Holstein Cows.

A genome-wide association study (GWAS) of age at first calving (AFC) using 813,114 first lactation Holstein cows and 75,524 SNPs identified 2063 additive effects and 29 dominance effects with p-values < 10-8. Three chromosomes had highly significant additive effects in the regions of 7.86-8.12 Mb of Chr15, 27.07-27.48 Mb and 31.25-32.11 Mb of Chr19, and 26.92-32.60 Mb of Chr23. Two of the genes in those regions were reproductive hormone genes with known biological functions that should be relevant to AFC, the sex hormone binding globulin (SHBG) gene, and the progesterone receptor (PGR) gene. The most significant dominance effects were near or in EIF4B and AAAS of Chr05 and AFF1 and KLHL8 of Chr06. All dominance effects were positive overdominance effects where the heterozygous genotype had an advantage, and the homozygous recessive genotype of each SNP had a very negative dominance value. Results from this study provided new evidence and understanding about the genetic variants and genome regions affecting AFC in U.S. Holstein cows.

A retroviral insertion in the tyrosinase (TYR) gene is associated with the recessive white plumage color in the Yeonsan Ogye chicken.

The recessive white (locus c) phenotype observed in chickens is associated with three alleles (recessive white c, albino ca, and red-eyed white cre) and causative mutations in the tyrosinase (TYR) gene. The recessive white mutation (c) inhibits the transcription of TYR exon 5 due to a retroviral sequence insertion in intron 4. In this study, we genotyped and sequenced the insertion in TYR intron 4 to identify the mutation causing the unusual white plumage of Yeonsan Ogye chickens, which normally have black plumage. The white chickens had a homozygous recessive white genotype that matched the sequence of the recessive white type, and the inserted sequence exhibited 98% identity with the avian leukosis virus ev-1 sequence. In comparison, brindle and normal chickens had the homozygous color genotype, and their sequences were the same as the wild-type sequence, indicating that this phenotype is derived from other mutation(s). In conclusion, white chickens have a recessive white mutation allele. Since the size of the sample used in this study was limited, further research through securing additional samples to perform validation studies is necessary. Therefore, after validation studies, a selection system for conserving the phenotypic characteristics and genetic diversity of the population could be established if additional studies to elucidate specific phenotype-related genes in Yeonsan Ogye are performed.

Status of Vitamin D Receptor Gene Polymorphism and 25-Hydroxy Vitamin D Deficiency with Essential Hypertension.

Essential hypertension (EH) is a multifactorial and complex disease with high rate of incidence and associated co-morbidities. Previous studies do not provide unanimous results for the risk of hypertension and association with Fok I genotype frequency and serum vitamin D levels. Hence, this study was undertaken to determine the status of Fok I vitamin D receptor (VDR) gene polymorphism along with vitamin D levels and blood pressure in patients with EH. Four hundred (200 controls and 200 cases of essential hypertension) participants from general Indian population were enrolled in this study. Peripheral blood samples were collected for genotyping Fok I-VDR gene polymorphism using PCR–RFLP method whereas 25-OH vitamin D levels in serum were quantified using high performance liquid chromatography (HPLC). Significantly reduced 25-OH vitamin D levels were observed in patients with EH (24.04 ± 8.62 vs 50.46 ± 15.46) compared to control subjects (p = 0.0001). Homozygous recessive genotype ‘ff’ frequency was increased by 8.06 fold (CI: 3.71–17.47, p = 0.0001) in patients with EH compared to dominant ‘FF’ genotype frequency. In conclusion, recessive ‘ff’ genotype frequency correlates with reduced serum vitamin D levels and results in significantly increased systolic and diastolic blood pressures leading to predisposition of EH.

Genetic Analysis of the Unique Epicuticular Wax Profile of ‘Odourless Greenleaf’ Onion

The amounts and types of epicuticular waxes on onion (Allium cepa) leaves affect the severity of feeding damage by onion thrips (Thrips tabaci), a serious insect pest of onion. Onion plants with light green leaves are referred to as “glossy” and accumulate less epicuticular wax relative to the blue–green (“waxy”) foliage of wild-type onion. The onion cultivar Odourless Greenleaf (OGL) has visually glossy foliage, shows resistance to thrips feeding damage, and has the unique profile of accumulating waxes with 28 or fewer carbons. Plants of glossy OGL were crossed with the glossy inbred B9885 and waxy inbred lines DH2107, DH066619, and B8667. Hybrid progenies from glossy OGL by waxy plants had waxy foliage, indicating recessiveness of the glossy OGL phenotype relative to the waxy phenotype. Hybrids from the cross of glossy OGL with glossy B9885 were also waxy, revealing different genetic bases for the glossy phenotype in these two onions. Hybrid plants were self-pollinated and segregations in F2 families from OGL × waxy crosses fit the expected 3:1 ratio for the single locus at which the homozygous recessive genotype conditions glossy foliage. Segregations in F2 families from crosses of glossy 9885 × glossy OGL fit the 9:7 ratio, supporting two independently segregating loci, where the recessive genotype at either locus conditions the glossy phenotype. Amounts and types of epicuticular waxes on leaves of F2 progenies from crosses of OGL × waxy B8667 and glossy B9885 × OGL were determined using gas chromatography-mass spectrometry. Single-nucleotide polymorphisms were genotyped and genetic maps were constructed. The visually glossy phenotype from OGL and its unique profile of epicuticular waxes were conditioned by one locus on chromosome 6, for which we propose the name glogl. Onion populations such as OGL with unique epicuticular wax profiles will be important germplasms for the development of onion cultivars that suffer less feeding damage from onion thrips compared with waxy onion.

Klotho gene polymorphism in renal stone formers from Northwestern India.

Klotho gene is an important gene involved in calcium homeostasis, and polymorphisms of this gene may render the individual prone to renal stone formation. We evaluated G395A single nucleotide polymorphisms (SNPs) of Klotho gene at rs1207568 in renal stone patients of North India. This was a prospective study involving 150 patients of renal stone disease (aged 15-60years) and 100 age- and sex-matched controls. The DNA was isolated and subjected to polymerase chain reaction (PCR) for identifying the G395A Klotho SNPs at rs1207568. Confronting two pair primers were used, and gel electrophoresis showing two bands at 175,252bp was considered as GG genotype, three bands at 121,175 and 252bp as GA and two bands at 121 and 252bp as AA genotype. The association between genotype and cases was evaluated by using Chi-square test and logistic regression analysis. Cases and controls were well matched for age (40.65 vs 42.06, p = 0.063) and sex (p = 0.420). Significantly high proportion of patients with renal stones had GG genotype as compared to controls (odds ratio (OR) 2.37(1.39,4.03), p = 0.001). None of the participants (cases and controls) had homozygous recessive AA genotype. The risk of stone formation was significantly higher in the population carrying G allele {OR 1.94 (1.225-3.073), p 0.004}. Mean serum calcium was higher in stone formers with GG genotype as compared to those with GA genotype (9.16mg/dl vs 8.91mg/dl; p = 0.06). GG genotype of G396A Klotho gene SNPs is associated with renal stone formation. The G allele carrier is twice at risk of renal stone formation. The absence of AA genotype in north-western Indian population remains a curiosity.

Association of rs1801133 polymorphism with migraine susceptibility: A case-control study followed by updated meta-analysis and trial sequential analysis

Migraine is a multi-factorial neurovascular disorder causes nausea and headache. This study was aimed to determine the association between MTHFR gene rs1801133 polymorphism with migraine risk in South-Indian population using ARMS-PCR and DNA sequencing. Further, we have performed an updated meta-analysis of case-control studies relating rs1801133 polymorphism with migraine. Additionally, to identify the risk of type-I error trial sequential analysis was executed. The genotyping results of MTHFR gene polymorphism from our study revealed a positive association with migraine in a homozygous recessive (TT) genotype (OR = 2.52 (95% CI [0.96–6.64]), P = 0.046). For meta analysis, twenty case-control studies were assessed which revealed positive relationship between rs1801133 polymorphism with migraine in mixed ethnic populations (TT vs CT + CC, OR = 1.33 (95% CI [1.04–1.68]), P = 0.02; CT vs CC, OR = 0.85 (95% CI [0.74–0.97]), P = 0.02; TT vs CC, OR = 1.37 (95% CI [1.03–1.82]), P = 0.03; T vs C, OR = 1.20 (95% CI [1.02–1.41]), P = 0.03) of all analyzed genetic models. Further, ethnicity-based stratification analyses showed consistent results in Asian ethnic population. To conclude, our findings from meta-analysis confirm that rs1801133 MTHFR gene polymorphism might play a significant role in migraine susceptibility.

Assessment of vitamin D-binding protein (DBP) gene polymorphisms and their correlation with multiple sclerosis: a case-control study in a sample of the Syrian population

BackgroundVitamin D deficiency is a major health concern as it increases the risk of developing many serious diseases. Recently, the correlation between vitamin D deficiency and multiple sclerosis (MS) is a matter of serious debate. In this case-control study, we aimed to assess the correlation between genetic changes in the vitamin D-binding protein (DBP) gene and their consequence on MS patients. Our sample study consisted of 110 individuals; 40 patients with MS as cases and 70 healthy controls. Vitamin D levels were determined by immunofluorescence assay, and polymorphisms at rs7041 (c.1296 T > G p.Asp416Glu) and rs4588 (c.1307C > A p.Thr420Lys) of the DBP gene were genotyped using PCR/RFLP method for all cases and controls.ResultsOur results showed that genotype frequencies were consistent with Hardy-Weinberg equilibrium. A significant association was found in rs7041 (c.1296TT) homozygous wild-type, and the odds ratio was < 1 suggesting a protective role against developing MS (OR; 0.03, p = 0.0002) whereas the c.1296GG genotype was significantly correlated with an increased risk for MS by 6 folds (OR: 6.0000, p < 0.0001). No significant association was noted at rs4588 and MS occurrence. In addition, our compound genotyping results revealed that haplotypes 1S-1S are 6 times more likely to develop MS, whereas haplotypes 1F-1F had a more protective role in MS patients (OR: 0.063, p = 0.06.), respectively. The risk of vitamin D insufficiency in patients was greater by 14 folds compared to controls (OR: 14.05, p = 0.0128). Furthermore, the c.1296GG genotype was associated significantly by more than 4 times with insufficient levels of vitamin D and by 7 folds with vitamin deficiency.ConclusionsWe conclude that polymorphisms in the DBP gene could have independent effects on the risk of developing multiple sclerosis. The homozygous recessive genotype at rs7041 was associated with insufficient levels of vitamin D and with the risk of MS emergence.

Analysis of polymorphism of strawberry genotypes (Fragaria L.) according to the strawberry red root spot resistance gene RPF1 for identification of strawberry forms promising for breeding and horticulture

Red root spot (Phytophthora fragariae var. fragariae Hickman) is one of the most important strawberry diseases in the temperate climate zone. Identification of forms, carrying resistance genes, is an important stage in breeding programs aimed at obtaining red root spot resistant strawberry varieties. Diagnostic DNA markers of target genes will increase reliability of identification and efficiency of strawberry breeding for the creation of resistant genotypes. The purpose of this study is analysis of polymorphism of wild species of Fragaria L. genus and strawberry varieties (F. × ananassa Duch.) according to the strawberry red root spot resistance gene Rpf1 using molecular markers. The research sunjects were the wild species F. orientalis Los., F. moschata Duch., F. ovalis Rydb., F. virginiana Duch. ssp. platypetala and strawberry varieties (F. × ananassa Duch.) of different ecological and geographic origin. Total genomic DNA of strawberry was extracted from the fresh leaves using the Puchooa method. To assess the allelic state of Rpf1 gene, SCAR-R1A marker (linked to the Rpf1 dominant allele) and OPO-16C marker (linked to the rpf1 recessive allele) have been used. SCAR-R1A marker was identified in wild species F. virginiana Duch. ssp. platypetala (vegetation region: British Columbia, Canada), pineapple strawberry varieties Bylinnaya and promising selected forms 62-41 (Bylinnaya × Feyyerverk), 65-17 and 65-24 (Olimpiyskaya nadezhda × Bylinnaya). These genotypes are characterized by heterozygous Rpf1rpf1 genotype according to Rpf1 gene (both markers are present in genotype) and can be used as red root spot resistance source in marker-assisted selection. In the remaining studied genotypes of strawberry, SCAR-R1A marker was not detected, which presumably indicated their homozygous recessive genotype rpf1rpf1 according to Rpf1 gene. The research results can be useful for breeders of strawberry and researchers of plant biodiversity of p. Fragaria.

Polymorphism of monogenic scab resistance loci in apple varieties

Background. Monogenic scab resistance is an important trait of apple, useful to plant breeders. DNA markers provide a possibility to differentiate apple cultivars according to individual resistance determinants with high reliability and identify promising genotypes. The present study shows the results of the molecular genetic analysis of apple varieties, targeted at the Rvi2, Rvi4, Rvi6 and Rvi8 monogenic scab resistance loci.Materials and methods. Biological material was represented by apple cultivars of different environmental and geographical origin. Total genomic DNA was extracted from fresh leaves using CTAB methods according to the DArT protocols. The Rvi6 gene was identified with two markers, VfC (STS) and AL07 (SCAR). The presence of the Rvi4 gene was detected with the multiallelic SCAR marker AD13. The Rvi2 and Rvi8 genes were diagnosed with the SCAR marker OPL19.Results and conclusion. The Rvi6 gene was identified in 54.4% of genotypes, of which 91.9% were heterozygous, and 8.1% (cvs. ‘Svezhest’, ‘Freedom’ and ‘GoldRush’) homozygous dominant for this locus. The marker AD13-SCAR was detected in 25.0% of the studied forms (the putative genotype for the resistance gene is Rvi4Rvi4 or Rvi4rvi4). The marker OPL19-SCAR (Rvi2 and Rvi8 genes) was present in 73.5% of the analyzed forms. At least one of the studied molecular markers was present in the genome of 86.8% of genotypes. The appletree cultivars ‘Kandil Orlovsky’, ‘Krasulya’, ‘Sozvezdiye’, ‘Galarina’, ‘Priam’, ‘Redfree’ and ‘Witos’ are characterized by the combination of markers VfC, AL07-SCAR, AD13-SCAR and OPL19-SCAR in one genotype (the putative genotype for the resistance genes is Rvi2(Rvi8)Rvi4Rvi6rvi6). Cvs. ‘Antonovka zimnyaya’, ‘Antonovka krasnaya’, ‘Berkutovskoye’, ‘Geyzer’, ‘Pamyati Nesterova’, ‘Renet Simirenko’, ‘Terentyevka’, ‘Golden Delicious’, and ‘Telemon’ presumably have a homozygous recessive genotype for the studied resistance loci.

Genetic Mapping of Chartreuse Bulb Color in Onion

The most common bulb colors of onion (Allium cepa) are red, yellow, and white; chartreuse is a relatively rare bulb color conditioned by the homozygous recessive genotype at the G locus. In this research, plants with chartreuse bulbs were crossed with inbreds with yellow bulbs to develop segregating families for genetic mapping of the G locus. For all of 17 F2 families, segregations for yellow vs. chartreuse bulbs fit the expected 3:1 ratio (P &gt; 0.05). DNAs were isolated from one F2 family and genotyped for single nucleotide polymorphisms (SNPs) to produce a genetic map of the G locus and 380 SNPs, of which 119 SNPs have not been previously mapped. Segregations for yellow vs. chartreuse bulbs placed the G locus at the end of chromosome 7 at 6.7 cM from the nearest SNP (isotig28625_2789). This codominant SNP marker linked to the G locus should be useful for introgression of recessive chartreuse bulb color into diverse onion populations for commercial production of this uniquely colored onion.

The Single Nucleotide Polymorphisms (rs1929992) in IL-33 is Associated with Gyneacological and Breast Cancer

The aim of the present study is to evaluate the role of Interleukin-33 gene polymorphism among patients with gyneacological and breast cancer. Blood samples were collected from 120 patients with gyneacological and breast cancer, and 79 healthy women were control group. rs1929992 (in IL-33 gene) were determined using PCR-RFLP. The statistical analysis and data presentation in the present study was based on inclusion of 120 women with cancer (uterine, breast, ovarian and cervical) serving as a study group and 79 apparently healthy women serving as a control group. The prevalence rate of homozygous wild genotype (A/A), related to IL-33, was 74.7% (59 out of 79) in control group and 49.2% (59 out of 120) in study group. In addition, the prevalence rate of heterozygous wild and recessive genotype (A/G), related to IL-33, was 15.2% (12 out of 79) in control group and 32.5% (39 out of 120) in study group. Moreover, the prevalence rate of homozygous recessive genotype (G/G), related to IL-33, was 10.1% (8 out of 79) in control group and 18.3% (22 out of 120) in study group.

Analysis of strawberry genetic collection (Fragaria L.) for Rca2 and Rpfl genes with molecular markers

Strawberry (Fragaria x ananassa Duch.) varieties are susceptible to many fungal diseases. Identification of forms, carrying resistance genes, is an important stage in breeding programs leading to resistant varieties. The use of molecular markers allows to determine with high reliability the presence of the necessary genes in the genome and to identify promising forms. Some of the common strawberry's diseases, causing significant damage to strawberry plantations, are anthracnose (Colletotrichum acutatum Simmonds) and red stele root rot (Phytophthora fragariae var. fragariae Hickman). Dominant Rca2 gene is involved in monogenic resistance to C. acutatum pathogenicity group 2. Rpf1, Rpf2, Rpf3 genes are determined in monogenic resistance to red stele root rot. The purpose of this study was molecular genetic testing genotypes of genus Fragaria L. to identify carriers of Rca2 allele anthracnose resistance and Rpf1 allele red stele root rot resistance. The objects of study were the wild species of the genus Fragaria L. and strawberry varieties (Fragaria x ananassa Duch.) of different ecological and geographic origin. To assess allelic state Rca2 anthracnose resistance gene the dominant SCAR marker STS-Rca2_240 was used, was linked to the resistance gene Rca2 with a genetic distance of 2.8 cM. Rpf1 gene red stele root rot resistance was identified with the dominant SCAR marker R1A, was linked to the resistance gene Rpf1 with a genetic distance of 3.0 cM. The resistant allele of the marker STS-Rca2_240 was identified in the Laetitia variety (Rca2Rca2 or Rca2rca2 genotype), which allows us to recommend it as a promising source in breeding for anthracnose resistance. The other studied forms have homozygous recessive state of the marker STS-Rca2_240 (putative genotype rca2rca2). The resistant allele of the marker SCAR-R1A in the varieties and wild species of strawberry under study is absent, which presumably indicates their homozygous recessive genotype of Rpf1 gene (rpf1rpf1).