Evaluation Of Genetic Polymorphisms Research Articles

Evaluation of genetic polymorphisms in TNF‑α‑308G/A rs1800629 associated with susceptibility and severity of rheumatoid arthritis: A systematic review and meta‑analysis.

To investigate the association of gene polymorphisms of TNF-α-308G/A rs1800629 with the susceptibility and severity of rheumatoid arthritis (RA), literature from PubMed, EMBASE, Web of Science and CNKI databases was searched. Two authors screened the literature independently, extracted data and evaluated the risk of bias of the included studies. According to the inclusion and exclusion criteria, five genetic models were established: The allelic model (A vs. G), dominant model (GA + AA vs. GG), recessive model (AA vs. GG + GA), co-dominant model (AA vs. GG) and super-dominant model (GG + AA vs. GA). Stata 17.0 software was used for the meta-analysis. A total of 34 eligible studies with 12,611 subjects were included, including 6,030 cases in the RA group and 6,581 controls. Meta-analysis calculations revealed that the genetic polymorphisms of TNF-α-308G/A rs1800629 were not significantly associated with susceptibility to RA, with an odds ratio and 95% confidence interval (CI) for each genetic model [A vs. G: 0.937 (0.762-1.152); GA + AA vs. GG: 0.918 (0.733-1.148); AA vs. GG + GA: 1.131 (0.709-1.802); AA vs. GG: 1.097 (0.664-1.813); and GG + AA vs. GA: 1.108 (0.894-1.373)]. For the association between TNF-α-308G/A rs1800629 gene polymorphisms and the severity of RA, the results of subgroup analysis calculations showed that TNF-α-308G/A rs1800629 gene polymorphisms were associated with the severity of RA in European populations, with the gene model and 95% CI [GA + AA vs. GG: 0.503 (0.297-0.853); and GG + AA vs. GA: 2.268 (1.434-3.590)]. When assessing the confidence in the positive results of the present study through the false-positive report probability, the positive results were observed to be reliable. No significant association was observed between genetic polymorphisms in TNF-α-308G/A rs1800629 and susceptibility to RA. However, a significant association exists with the severity of RA in European populations.

Evaluation of genetic polymorphisms at 21 autosomal STR loci in Ramgharia Sikh population of Punjab, India

Background STR (Short Tandem Repeat) markers are highly polymorphic markers, which are widely used in forensics DNA analysis and aid to ascertain unique genotype profiles of individuals and determine the genetic diversity of the given population. Aim In the present study, an attempt has been made to evaluate the population genetic diversity of the Ramgharia Sikh population of Punjab, India, using 21 autosomal STR loci (D3S1358, vWA, D16S539, CSF1PO, TPOX, D8S1179, D21S11, D18S51, D2S441, D19S433, TH01, FGA, D22S1045, D5S818, D13S317, D7S820, SE33, D10S1248, D1S1656, D12S391, and D2S1338) to augment the emerging forensic database related to the indigenous population of India. Subjects and methods For generation of the database, 200 (blood on FTA card) samples were obtained from genetically unrelated Ramgharia Sikhs residing in the state of Punjab. Twenty-one autosomal STR markers were analysed using the Globalfiler® PCR amplification kit. Results With the help of various statistical tools, a total of 232 alleles were observed and 11.048 ± 1.284 (mean ± standard deviation) alleles per locus were recorded. No locus deviated from Hardy Weinberg Equilibrium. SE33 locus was found to be the most polymorphic and exhibited the highest discrimination power, that is, 0.99. Moreover, results further indicated that Ramgharia Sikhs of Punjab showed a high affinity with Bhils of Madhya Pradesh (India). Thus, the studied population showed genetic proximity with the geographically close populations of India and showed significant genetic variations with distant populations, which was evident from the UPGMA tree and Principal Component Analysis plot. Conclusion Overall, the 21 autosomal STRs were found to be polymorphic in the Ramgharia population and suitable for forensic casework and studies on population genetics.

Efficiency of SSR and PawS markers for evaluation of genetic polymorphism among red clover (Trifolium pratense L.) cultivars

Background. Identification of crop varieties is presently one of the most important aspects due a significant annual increase in the number of newly developed cultivars. Application of molecular markers makes it possible to identify cultivars and secure protection of plant breeders’ rights. Marker techniques based on SSR loci and PawS markers were evaluated for their efficiency in revealing the DNA polymorphism in Russian red clover cultivars, and the research results are presented in this publication.Materials and Methods. The total genome DNA was extracted by a modified SDS method from 30 seedlings per each cultivar. Nine simple sequence repeats (SSR) and 4 PawS markers were used for genotyping. The basic genetic diversity parameters were measured and analyzed using the software resources GelAnalyzer 2010а, MStools v.3, and Statistica 7.0.Results and conclusion. The mean level of intervarietal DNA polymorphism in red clover was 38.6%. Cultivar-specific amplicons were obtained for 4 accessions (cvs. ‘Trifon’, ‘Topaz’, ‘Trio’ and ‘Mars’) with SSR loci RCS1307 and RCS3095. These loci were found appropriate for identification and certification of such cultivars. The tested PawS markers (individually and in combinations) proved non-informative for the analysis of intervarietal DNA polymorphism in red clover. The only primer pair PawS5+PawS16 generated reproducible PCR products, but unique amplicons were absent in the DNA profiles. The data obtained in this study may be helpful for further identification and certification of Russian red clover cultivars and promising breeding materials.

Adhesin genes and biofilm formation among pediatric Staphylococcus aureusisolates from implant-associated infections.

BackgroundMicrobial surface component recognizing adhesive matrix molecules (MSCRAMMs) facilitate Staphylococcus aureus adherence to host tissue. We hypothesized that S. aureus isolates from implant-associated infections (IAIs) would differ in MSCRAMM profile and biofilm formation in vitro compared to skin and soft tissue infection (SSTI) isolates.MethodsPediatric patients and their isolates were identified retrospectively. IAI and SSTI isolates were matched (1:4). Pulsed field gel electrophoresis was performed to group isolates as USA300 vs. non-USA300. Whole genome sequencing was performed and raw sequence data were interrogated for presence of MSCRAMMs (clfA, clfB, cna, ebh, efb, fnbpA, fnbpB, isdA, isdB, sdrC, sdrD, sdrE), biofilm-associated (icaA,D,B,C), and Panton-Valentine leukocidin (lukSF-PV) genes, accessory gene regulator group, and multilocus sequence types. In vitro biofilm formation was assessed for 47 IAI and 47 SSTI isolates using a microtiter plate assay. Conditional logistic regression was performed for analysis of matched data (STATA11, College Station, TX).ResultsForty-seven IAI and 188 SSTI isolates were studied. IAI isolates were more often methicillin susceptible S. aureus and non-USA300 vs. SSTI isolates [34 (72%) vs. 79 (42%), p = 0.001 and 38 (81%) vs. 57 (30%) p <0.001, respectively]. Greater than 98% of isolates carried clfA, clfB, efb, isdA, isdB, and icaA,D,B,C while cna was more frequently found among IAI vs. SSTI isolates (p = 0.003). Most isolates were strong biofilm producers.ConclusionsS. aureus IAI isolates were significantly more likely to be MSSA and non-USA300 than SSTI isolates. Carriage of MSCRAMMs and biofilm formation did not differ significantly between isolates. Evaluation of genetic polymorphisms and gene expression profiles are needed to further delineate the role of adhesins in the pathogenesis of IAIs.

Evaluation of genetic polymorphism at 20 autosomal STR loci in Rajput population of Himachal Pradesh, India.

In the present study, genetic diversity indices and forensic parameters of Rajput population of Himachal Pradesh, India, were obtained at 20 autosomal short tandem repeat (STR) loci included in the PowerPlex® 21 System (Promega, USA). With 227 alleles and 11.35 ± 0.89 alleles per locus, none of the locus deviated from the Hardy-Weinberg equilibrium (HWE). The most polymorphic and discriminative locus was Penta E. Phylogenetic tree showed high genetic affinity of Rajput population of Himachal Pradesh with Rajputs of Madhya Pradesh and Yadav of Bihar. Overall, the tested 20 autosomal STRs were polymorphic in Rajput population and found suitable in forensic casework and population genetic studies.

Common Type 2 Diabetes Genetic Risk Variants Improve the Prediction of Gestational Diabetes.

Gestational diabetes mellitus (GDM) is a carbohydrate intolerance that occurs in women during pregnancy. The aims of this study were to develop a model to predict the risk of GDM development using common clinical parameters and selected genetic polymorphisms and to analyse the performance of the model using receiver operator characteristic (ROC) curves. ROC analysis was used to examine whether the evaluation of genetic polymorphisms may enhance the accuracy of GDM prediction in comparison to using common clinical risk factors only. This study included 204 pregnant women with GDM and 207 pregnant women with normal glucose tolerance. The diagnosis of GDM was based on a 75 g oral glucose tolerance test at 24-28 weeks gestation. The difference between the AUC of ROC curves for the model 1 including only age and BMI and the model 2 also including 8 genetic polymorphisms was highly significant (p=0.0001) in favour of model 2 (0.090±0.023). Moreover, the additional use of 8 genetic polymorphisms may increase both the sensitivity and specificity of GDM prediction by 10%. The results of this study indicate that the use of 8 genetic polymorphisms associated with carbohydrate and lipid metabolism and type 2 diabetes [PTGS2 (COX2) rs6681231, FADS1 rs174550, HNF1B rs4430796, ADIPOQ rs266729, IL18 rs187238, CCL2 rs1024611, HHEX rs5015480 and CDKN2A/2B rs10811661] together with clinical risk factors (BMI and age) may significantly improve the prediction of GDM.

日本人を主対象とした ｢医薬品の非臨床及び臨床第I相試験における遺伝子多型評価のための科学的情報｣ の取りまとめと今後の展望

日本人を主対象とした ｢医薬品の非臨床及び臨床第I相試験における遺伝子多型評価のための科学的情報｣ の取りまとめと今後の展望

Interactive effects of corticotropin-releasing hormone receptor 1 gene and work stress on burnout in medical professionals in a Chinese Han population

BackgroundBurnout is a worked-related stress syndrome caused by long-term exposure to a stressful environment. Dysregulation of the hypothalamic- pituitary- adrenal (HPA) axis may be involved in both stress and burnout; an evaluation of genetic polymorphisms which alter activity in the HPA may be predictive of how likely an environment is to produce burnout. MethodsUsing a cross-sectional design, this study examined whether corticotrophin-releasing hormone receptor 1 (CRHR1) gene polymorphism rs110402 is a risk factor for burnout; further, it explores whether the interaction of stress × CRHR1 gene predicts burnout in the healthcare workers in a Chinese Han population. House and Rizzo's work stress scale, Sources of Pressure Scale and Maslach Burnout Inventory-General Survey were administered to 712 participants from a large general hospital in Beijing. The CRHR1 rs110402 polymorphism was genotyped in 376 participants. ResultsOur results showed significant positive inter-correlations between stressor, work stress and depressive scores (all p < 0.001) with only one exception. Males, younger age and higher educational level were associated with burnout (all p < 0.05). The presence of the CRHR1 rs110402 genotype was not correlated with the presence of job stress or burnout. However, we found statistically significant interaction between CRHR1 rs110402 and job stress on burnout (p < 0.05). Individuals homozygous for the A allele reported significantly higher emotional exhaustion than G allele carriers in the high stress group. LimitationsThe sample was only chosen from the medical professions, and the sample size was relatively small. Only one polymorphism in CRHR1 gene was analyzed, while only about half of the total individuals were genotyped. ConclusionsOur results suggest a close relationship between work-related stress and burnout and that the A allele of the CRHR1 rs110402 polymorphism may enhance feelings of emotional exhaustion when experiencing work-related stress.

A novel evaluation of genetic polymorphism in BCG adenitis.

Hassanzad M, Farnia P, Darougar S, Velayati AA. A novel evaluation of genetic polymorphism in BCG adenitis. Turk J Pediatr 2019; 61: 466-470. Bacillus Calmette-Guerin (BCG) is a live attenuated vaccine which has been used to prevent tuberculosis, according to the World Health Organization (WHO) recommendation in parts of the world with an incidence of tuberculosis infection more than 1%. The incidence of BCG adverse reactions differs between regions with regional lymphadenitis as the most common presentation. The aim of this study was to detect the impact of polymorphisms causing BCG lymphadenitis in children receiving BCG vaccination at birth. Eight healthy infants with BCG adenitis from 4 to 12 months old were enrolled. All these patients underwent a thorough physical examination, abdominopelvic ultrasound evaluation to detect distant lymphadenopathies and immunodeficiency screening tests for any possible underlying immunodeficiency disorders. Then genotyping for known mutations was performed using restriction fragments length polymorphism (PCR-RFLP) assays. Sequencing was performed for IL-12 Rβ1, IFN-ϒ receptor 1, IL-10, TNF-α and P2X7. The mean age of onset of the adenitis was 6.5 months. TNF-857, IL-12Rβ1 705, IL-10 1082, and IFN-ϒ- 56 single nucleotide polymorphisms (SNPs) were common in the children studied. The most frequent polymorphism found in the patients with BCG adenitis except one, was the P2X7 -762 polymorphism. To conclude, these polymorphisms are more common in some ethnic populations but not others and make the genetic basis of immunity to BCG strains and the occurrence of post-BCG lymphadenitis in otherwise healthy children.

Evaluation of genetic polymorphism in estrogen receptor ? gene as breast cancer risk.

Breast cancer is very common cancer worldwide. Estrogen is one of the most important steroid hormones which play an important role in breast cancer. The aim of this study was to evaluate frequency distribution of ER-α gene SNPs in breast cancer patients and controls to find out any association with breast cancer risk. In the present study, two hundred breast cancer patients and one hundred age matched controls were taken to study breast cancer risk factors. The odd ratio (ORs) at 95% confidence interval (CIs) was computed to study significance of risk factor on menopausal status. Contribution of ESR1 gene in breast cancer was examined that allele frequency showed non-significant difference among patients and control group for rs138724640 and rs373404617 (p=0.4015 and p=0.8422 respectively). Odd ratio analysis showed that SNP rs2234693 and rs9340799 located on intron 1 were associated with breast cancer (p=0.0111, 0.025 respectively). SNP rs2077647 located on exon 3 showed only borderline significance (p=0.0777). C allele was found to be more prevalent in both patients and control group of rs138724640 and rs2234693. ‘A’ allele was more prevalent in breast cancer patients and controls of rs9340799 and in controls of rs373404617. The frequency of G allele was found to be more in breast cancer patients of rs373404617. In cases of SNP rs2077647, T allele was more frequent in both breast cancer patients and control group. Present study results suggest the difference of genotype distribution of ESR1 SNPs between breast cancer patients and controls; hence establish the association with breast cancer risk. Further validation studies are required on additional ESR1 SNPs to study the breast cancer risk using larger cohort.

Evaluation of genetic polymorphisms in MMP2, MMP9 and MMP20 in Brazilian children with dental fluorosis

Recent studies suggested that genetics contribute to differences in dental fluorosis (DF) susceptibility among individuals having the same environmental exposure. This study evaluated if MMP2, MMP9 and MMP20 are expressed during enamel development and assessed the association between polymorphisms in these genes with DF. Mice susceptible and resistant to DF were used to evaluate if MMPs were candidate genes for DF. The animals received fluoride and their enamels were used for immunohistochemistry. Additionally, 481 subjects from a city with fluoridation of public water supplies were recruited. Genotyping was performed using real time PCR. Allele/genotype frequencies were compared between groups. MMP2, MMP9 and MMP20 immunostaining was detected in both animal groups. DF was observed in 22.4% of the subjects. A borderline association was observed in MMP2 (rs243865), MMP9 (rs17576) and in MMP20 (rs1784418) (p = 0.06, p = 0.08 and p = 0.06 respectively). Briefly, MMPs were expressed during enamel maturation and genetic polymorphisms were not associated with DF.

Evaluation of genetic polymorphism, genomic template stability, condition factor and hemato-biochemical parameters in response to slow reduction in water level during Nile tilapia (Oreochromis niloticus) harvest

Evaluation of genetic polymorphism, genomic template stability, condition factor and hemato-biochemical parameters in response to slow reduction in water level during Nile tilapia (Oreochromis niloticus) harvest

Evaluation of genetic polymorphisms in glutathione S-Transferase theta1, glutathione S-Transferase mu1, and glutathione S-Transferase mu3 in oral leukoplakia and oral squamous cell carcinoma with deleterious habits using polymerase chain reaction

Context:Oral squamous cell carcinoma (OSCC) is the sixth most common cancer in the world. As per previous studies, most patients who develop oral cancer are elderly males who are heavy users of tobacco and alcohol; however, the incidence is increasing in younger individuals and in those who neither smoke nor drink. Many of the genes that code for the detoxification enzymes are polymorphic with abnormal activity profiles.Aims and Objectives:The aim of this study was to evaluate the risk of development of oral leukoplakia (OLP) and OSCC in glutathione S-transferase polymorphisms genes in the east coast of Andhra Pradesh population with tobacco consumption habit and habit-free controls using polymerase chain reaction (PCR-restriction fragment length polymorphism).Materials and Methods:This study included 15 patients each with histologically proven epithelial dysplasia and OSCC and compared with age- and gender-related controls with no tobacco habits in any form. A volume of 2 ml of blood sample was collected into presterilized vials containing ethylenediaminetetracetic acid from each individual under aseptic conditions. DNA extraction was done from whole blood, and PCR was performed. Statistical analysis was performed using Chi-square test and odds ratio (OR) and 95% confidence intervals (CIs).Results:The results are suggestive that glutathione S-transferase mu1 (GSTM1) null was associated with increased risk of OLP (OR = 5.5, 95% CI = 1.14–26.41, P = 0.021) and OSCC (OR = 11, 95% CI = 1.99–60.5, P = 0.021). Glutathione S-transferase theta1 (GSTT1) null genotype was associated with increased risk of OLP (OR = 2.154, 95% CI = 0.74–26.672, P > 0.99) and OSCC (OR = 2.154, 95% CI = 0.74–26.672, P > 0.99). The glutathione S-transferase mu3 (GSTM3) AB + BB genotypes appear to be risk factors for OSCC (OR = 1.31, 95% CI = 0.31–5.58, P = 0.7) although statistically insignificant.Conclusion:Hence to conclude, because of small sample size in the present study, statistically insignificant results were found and this study failed to observe the relationship between GSTM3 and GSTT1 polymorphism and risk of developing OSCC and positive relationship was observed with GSTM1 polymorphism and risk of developing OSCC.

Evaluation of Genetic Polymorphisms in Clusterin and Tumor Necrosis Factor-Alpha Genes in South Indian Individuals with Pseudoexfoliation Syndrome

Purpose: The aim of this study was to explore the potential association of genetic variants across clusterin (CLU) and tumor necrosis factor-alpha (TNF-α) genes in South Indian individuals with pseudoexfoliation syndrome (PEXS) and pseudoexfoliation glaucoma (PEXG).Materials and Methods: A total of 523 individuals including 299 unrelated cases (150 PEXS and 149 PEXG) and 224 age- and ethnically-matched healthy controls were recruited for genetic analysis. Six single-nucleotide polymorphisms (SNPs) including, five CLU SNPs (rs11136000, rs2279590, rs9331888, rs9331931, rs3087554) and one promoter SNP (rs1800629) of TNF-α were genotyped in all study subjects. Genotyping of CLU SNPs were performed using the TaqMan allelic discrimination assay while TNF-α SNP was genotyped using polymerase chain reaction (PCR)-based restriction fragment length polymorphism (RFLP) analysis. Association analysis was performed by determining the distributions of genotype and allele frequencies, Hardy–Weinberg equilibrium, and chi-square p values and odds ratios as implemented in the Golden Helix SNP & Variation Suite (SVS).Results: Five CLU SNPs did not show any significant differences in allele frequencies between patients and control subjects (rs3087554, p = 0.919, OR = 1.01, 95% CI: 0.77–1.33; rs2279590, p = 0.432, OR = 1.12, 95% CI: 0.84–1.51; rs9331931, p = 0.310, OR = 1.24, 95% CI: 0.81–1.89; rs11136000, p = 0.072, OR = 1.31, 95% CI: 0.97–1.76; rs9331888, p = 0.911, OR = 1.01, 95% CI: 0.78–1.31). The investigation of TNF-α SNP established a significant association with PEXS and PEXG (p = 0.042, OR = 0.61, 95% CI: 0.38–0.99). However, this association did not remain significant after Bonferroni correction.Conclusions: Our data suggest that genetic variants in CLU and TNF-α genes do not play a major role in the development of PEXS and PEXG in the South Indian population.

Characterization of morphological traits and RAPD polymorphism in selected forms of Kentucky bluegrass (Poa pratensis L.)

Abstract Measurements were taken of seven morphological characteristics of various forms of Poa pratensis, including ecotypes (12), cultivars (4), and breeding lines (2). Statistically significant differences relating to the average number and length of vegetative shoots and the leaf width of the forms studied were determined using Tukey’s HSD test. Evaluation of genetic polymorphism was carried out using the RAPD-PCR method. 18 primers were used for molecular analysis and 473 amplification products were obtained, in which high levels of polymorphism (84.2%) and specificity (63) were discovered. The mean value of Dice’s coefficient, the genetic similarity indicator, was about 0.7. These results indicate a significant genetic similarity between most of the forms of Poa pratensis studied. A correlation was also observed between genetic variation and phenotypic diversity of the studied forms of Poa pratensis. Convergence was found to occur between phenotype and genetic similarity among the forms. Only the dos01 468 ecotype showed discrepancies in the assessment of phenotypic and genomic variability.

Evaluation of Genetic Polymorphisms in Patients with Multiple Chemical Sensitivity

ObjectiveMultiple chemical sensitivity (MCS) is a chronic medical condition characterized by symptoms that the affect an individual’s response to low-level chemical exposure. In this study, we identified a chemical sensitive population (CSP) and investigated the effect of genetic polymorphisms on their risk of chemical sensitivity.MethodsA quick environment exposure sensitivity (QEESI) questionnaire was used to survey 324 Japanese male workers whose DNA samples had been collected and stored. The following genes, which encode enzymes affecting the metabolic activation of a large number of xenobiotic compounds, were selected and analyzed in order to determine their influence on genetic predisposition to CSP: cytochrome P450 (CYP) 2E1, N-acetyl transferase (NAT) 2, glutathione S-transferase (GST) M1, GSTT1, GSTP1, low Km aldehyde dehydrogenase (ALDH2), and superoxide dismutase (SOD) 2.ResultsSignificant case-control distributed differences were observed in SOD2 polymorphisms and allele frequency distribution in high chemical sensitive subjects. Both the significant adjusted OR of 4.30 (95% CI, 1.23–15.03) and 4.53 (95% CI, 1.52-13.51) were observed in SOD2 Ala/Ala and Val/Ala compared to Val/Val and in SOD2 Ala/Ala compared to Val/Ala compared to Val/Val genetic analysis in the high chemical sensitivity case-control study.ConclusionsWe observed that high chemical sensitive individuals diagnosed by using Japanese criteria as MCS patients were more significantly associated with SOD2 polymorphisms.

Molecular Characterization of the Leptin Receptor Gene as a Candidate Gene in the Pulmonary Hypertension Syndrome in Broiler Chickens

Leptin Receptor Gene (LEPR) is a candidate gene in understanding the genetic basis of the Pulmonary Hypertension Syndrome (PHS) in broilers. Identification and evaluation of genetic polymorphisms in LEPR may provide a link between traits like Body Weight (BW) and Total Ventricle weight (TV) to the development of PHS. In this study, primers were designed in exons, upstream and downstream sequences to identify mutations in the LEPR on four broilers selected with respect to the PHS-related traits. About 77% of the 11,820 bp of the LEPR gene covered by the primers were sequenced. No mutations were found between the chickens associating the traits to the occurrence of PHS. However, 42 single nucleotide polymorphisms and four Indels were found between the reference sequences of the red jungle fowl and the experimental population. Ten of these mutations were not previously reported in LEPR at the genomic and transcript sequences (NP_989654.1, ENSGALT00000018009). The 10 mutations include six SNPs in intron regions, two Indels and two non-synonymous SNPs. The two new non-synonymous SNPs; G301A and A1637G, led to amino acid change A89T and N534S, respectively.

Genetic characterization of commercial Saccharomyces cerevisiae isolates recovered from vineyard environments

One hundred isolates of the commercial Saccharomyces cerevisiae strain Zymaflore VL1 were recovered from spontaneous fermentations carried out with grapes collected from vineyards located close to wineries in the Vinho Verde wine region of Portugal. Isolates were differentiated based on their mitochondrial DNA restriction patterns and the evaluation of genetic polymorphisms was carried out by microsatellite analysis, interdelta sequence typing and pulsed-field gel electrophoresis (PFGE). Genetic patterns were compared to those obtained for 30 isolates of the original commercialized Zymaflore VL1 strain. Among the 100 recovered isolates we found a high percentage of chromosomal size variations, most evident for the smaller chromosomes III and VI. Complete loss of heterozygosity was observed for two isolates that had also lost chromosomal heteromorphism; their growth and fermentative capacity in a synthetic must medium was also affected. A considerably higher number of variant patterns for interdelta sequence amplifications was obtained for grape-derived strains compared to the original VL1 isolates. Our data show that the long-term presence of strain VL1 in natural grapevine environments induced genetic changes that can be detected using different fingerprinting methods. The observed genetic changes may reflect adaptive mechanisms to changed environmental conditions that yeast cells encounter during their existence in nature.

소 성장호르몬 유전자의 Exon 5번에서의 새로운 다형성 연구

Growth Hormone (GH) gene is a member of gene family through the evolutionary process from a small common ancestral gene by a series of gene duplications. The role of the GH in growth and performance controls has been extensively studied in human, mice and livestock. Many researchers have considered GH as a strong candidate gene for evaluation of genetic polymorphisms that could be associated with economic traits in cattle. We report here a novel missense mutation within the exon 5 of the bovine Growth Hormone (bGH) gene. We could amplified 522 bp fragments from eight unrelated Hanwoo cattle by PCR, then, subsequently cloned and sequenced. An Msp I RFLP corresponding to a C to T transition was observed at position 2258 nt. From this result, we could predict a missense mutation (Arg to Trp) at codon 166 in a highly conserved region among many mammals. Codominant Mendelian segregation of the two alleles, Msp I (+) and Msp I (Ĕ), was observed in two full-sib F2 families (n = 32, African taurine Bos taurus × African zebu Bos indicus) and eight half-sib Hanwoo families. For the availability of genetic marker, we have performed PCR-RFLP with a large number of individual animals from 15 different cattle breeds (European and Asian taurines, and African indicines). Consideration of breed frequencies of Msp I (Ĕ) allele in relation to breed type and their geographic origins, shows higher frequencies in humped breeds or Asian cattle breeds than in humpless or European breeds. This result indicates that the missense mutation can be contributed the functional significance such as the signal transduction through the receptor binding, also may be used as a marker for selection of the economic traits in Hanwoo.