Association of microsatellite polymorphism of MICA gene with susceptibility to esophageal cancer / 中国免疫学杂志

Objective:To explore the association of microsatellite polymorphism of MICA gene with susceptibility to esophageal cancer.Methods: PCR-STR microsatellite genotyped technique was used to detect the polymorphism of MICA in Exon 5 in 103 cases of esophageal cancer and 84 cases of normal controls.Constructed of eukaryotic expression vector in esophageal carcinoma with high frequency of occurrence of the MICA allele.NK cells killing effect to 293T cells after alleles MICA transfected were assayed by LDH and the effect on target was 20∶1.ELISA was used to test supernatants sMICA of 293T cell after transfected.Results: Identified five allelic genes in MICA Exon 5 with esophageal cancer.Each allele and its frequency respectively were:MICA-A4(9.71%),MICA-A5(22.3%),MICA-A5.1(40.8%),MICA-A6(15.5%),MICA-A9(11.7%).MICA-A5.1 showed significant difference comparison with the control group.After 293T cell line was transfected MICA allele,MICA-A5.1 group was less sensitive to NK cytotoxicity compared to other groups[(30.4±6.3)%,P<0.05].The secretion of soluble MICA increased(135.7±6.2)pg/ml.Conclusion: Esophageal cancer was relevent with the MICA-A5.1 polymorphism of MICA Exon 5 alleles.Its risk is higher than other alleles.

Correlation between microsatellite polymorphisms in ob gene 3′ flanking region with overweight and obesity in Chinese Han ethnicity in Shanghai / 第二军医大学学报

Objective: To investigate the correlation between the microsatellite polymorphisms in ob gene 3′ flanking region with obesity in Chinese Han ethnicity in Shanghai. Methods: The genotypes of polymorphisms in A gene 3′ flanking region were determined by PCR in 232 Chinese Han subjects (including 130 obese patients and 102 normal controls). The clinical data, including height, weight, waist circumference, hip circumference, body mass index, waist-to hip ratio (WHR), blood glucose, serum insulin, blood lipidsland uric acid, were compared between the 2 groups. Results: No significant difference of genotype frequency (I/I 0.115, I/ II 0.331, II/II 0.554 vs I/I 0.059, I/II 0.333, II/II 0.608) and allele frequency (I 0.281, II 0.719 vs I 0.225, II 0.775) of A gene 3′flanking region was observed between the 2 groups. In obese group, patients with I + II genotype was associated with increased WHR compared with those with II/II genotype (0.91±0.05 vs 0.86 ± 0.03, P=0.047). Logistic regression analysis showed that WHR was independently correlated with A gene polymorphisms (P=0.042). Conclusion: Polymorphisms in ob gene 3′ flanking region are correlated with central obesity in obese patients of Chinese Han ethnicity in Shanghai.

Relationship between androgen receptor gene (CAG)n polymorphism and primary liver cancer / 国际外科学杂志

The exon 1 of the human androgen receptor gene contains CAG(polyglutamine) repeat length polymorphism. The CAG repeat sequence is closely relevant to many diseases. In this article, we reviewed the relationship between androgen receptor gene(CAG)n polymorphism anti primary liver cancer.

Lack of the Association between Microsatellite Polymorphism in Toll-like Receptor 2 Gene and Development of COPD / 결핵및호흡기질환

BACKGROUND: The fact that only 10-20% of chronic cigarette smokers develop chronic obstructive pulmonary disease (COPD) reflects the presence of genetic factors associated with the susceptibility to COPD. Recently, it was reported that the surfactant protein A increases the secretion of matrix metalloprotease 9, which degrades extracellular matrices of the lung, through a Toll-like receptor 2 (TLR2). In this context, possible role of TLR2 in the pathogenesis of COPD was postulated, and a functional dinucleotide repeat polymorphism in intron II of TLR2 was evaluated for any association with COPD. METHOD: Male patients with COPD and male smokers with a normal pulmonary function were enrolled in this study. The number of Guanine-Thymine repeats in intron II of the TLR2 gene were counted. Because the distributions of the repeats were trimodal, the alleles were classified into three subclasses, 12-16 repeats: short (S) alleles; 17-22 repeats: medium length (M) alleles; and 23-27 repeats: long (L) alleles. RESULT: 125 male patients with COPD and 144 age- and gender-matched blood donors with a normal lung function were enrolled. There were no differences in the distribution of each allele subclass (S, M and L) between the COPD and control group (p=0.75). The frequencies of the genotypes with and without each allele subclass in the COPD and control group were similar. CONCLUSION: A microsatellite polymorphism in intron II of TLR2 gene was not associated with the development of COPD in Koreans.

The STR polymorphism (AAAAT)n within the intron 1 of the tumor protein 53 (TP53) locus in 17 populations of different ethnic groups of Africa, America, Asia and Europe

The STR (AAAAT)n within intron 1 of the TP53 locus was screened in 17 populations from 3 main ethnic groups: Europeans, Asiatics, and Africans, and from the hybrid population of Costa Rica (1968 samples). Three alleles, 126/7 (bp/copies of the repeat), 131/8 and 136/9 were the most prevalent in all populations. Other alleles rarely reached frequencies of 10% or higher. Observed heterozygosities ranged between 0.351 and 0.829. Patterns of diversity fit well with both the geographic origin of the samples and the history of the populations screened. A statistical test suggests that single-step mutational events have been the main mechanism producing new alleles at this locus. Fixation indexes (R(ST)) for this marker showed an effect of population subdivision on divergence only within the Asiatic group; they were insensitive at the level of major ethnic groups as well as within Africans and within Europeans.

CYP11alpha (tttta)n Microsatellite Polymorphism in Korean Patients with Polycystic Ovary Syndrome / 대한불임학회지

OBJECTIVES: To investigate the distribution and functional significance of CYP11alpha (tttta)n microsatellite polymorphism in Korean patients with polycystic ovary syndrome MATERIALS AND METHODS: Analysis of CYP11alpha(tttta)n microsatellite polymorphism was carried out on DNA samples from 97 patients with polycystic ovary syndrome and 70 normal controls. Comparison were done between PCOS patients and controls concerning CYP11alpha (tttta)n microsatellite polymorphism genotype or allele frequencies. RESULTS: The most frequent allele observed in the controls was an allele with six repeats (60.7%). Significant difference in the frequency of genotype (4R (-) genotype) having no copy of four-repeat-allele were observed between PCOS patients and controls (66.0% vs 34.0%, p=0.038, OR=1.939). But no significant difference was observed in the serum levels of total testosterone or free testosterone between 4R (+) genotype and 4R (-) genotype among PCOS patients. However, hyperandrogenic PCOS patients with 4R (+) genotype showed a higher serum testosterone levels compared to controls (mean+/-S.D: 0.49+/-0.21 ng/ml vs 0.37+/-0.18 ng/ml, p=0.037). CONCLUSION: The alleleic distribution of CYP11alpha (tttta)n microsatellite polymorphism in Korean subjects were different from those reported in Caucasians. CYP11alpha (tttta)n microsatellite polymorphism was associated with polycystic ovary syndrome in the Korean population, and may play a role in the synthesis of androgens in patients with polycystic ovary syndrome.

Genetic polymorphism of tumor necrosis factor microsatellite in chronic atrophic gastritis and gastric adenocarcinoma / 中华消化杂志

Objective To investigate whether tumor necrosis factor (TNF)a, TNFb and TNFc microsatellite polymorphisms correlate with chronic atrophic gastritis and gastric adenocarcinoma in Chinese Han population. Methods TNFa, TNFb and TNFc microsatellite alleles in 164 healthy subjects, 53 patients with chronic atrophic gastritis and 56 patients with gastric adenocarcinoma were typed using PCR technique combined with High Voltage denaturing PAGE and silver staining. At the same time, the PCR products were cloned and sequenced. Results The frequency of TNFa10 allele was significantly higher in patients with chronic atrophic gastritis than in healthy individuals ( 19.81% vs. 11.89% , P = 0.04 ). However it was not related to age, gender, degree of atrophy or intestinal metaplasia in patients with chronic atrophic gastritis. The frequency of TNFa6b5c1 haplotype homozygote was significantly lower in patients with gastric adenocarcinoma than in healthy individuals ( 1.79% vs. 15.85% , P = 0.006 ). The sequence result revealed that the copy number of dinucleiotide repeating within the same TNFa allele was not consistent with that in the reports from Western countries. Conclusions It should be more accurate and clear to define TNFa alleles. TNFa10 allele is associated with the susceptibility to chronic atrophic gastritis. TNFa6b5c1 haplotype homozygote is negatively associated with gastric adenocarcinoma and thus may play a resistant role in the shifting process from chronic atrophic gastritis to gastric adenocarcinoma.

Correlation between microsatellite polymorphisms in ob gene 3′ flanking region with overweight and obesity in Chinese Han ethnicity in Shanghai / 第二军医大学学报

Objective:To investigate the correlation between the microsatellite polymorphisms in ob gene 3′flanking region with obesity in Chinese Han ethnicity in Shanghai.Methods: The genotypes of polymorphisms in ob gene 3′flanking region were determined by PCR in 232 Chinese Han subjects(including 130 obese patients and 102 normal controls).The clinical data,including height,weight,waist circumference,hip circumference,body mass index,waist-to hip ratio(WHR),blood glucose,serum insulin,blood lipids,and uric acid,were compared between the 2 groups.Results: No significant difference of genotype frequency(Ⅰ/Ⅰ 0.115,Ⅰ/Ⅱ 0.331,Ⅱ/Ⅱ 0.554 vs Ⅰ/Ⅰ 0.059,Ⅰ/Ⅱ 0.333,Ⅱ/Ⅱ 0.608) and allele frequency(Ⅰ 0.281,Ⅱ 0.719 vs Ⅰ 0.225,Ⅱ 0.775) of ob gene 3′flanking region was observed between the 2 groups.In obese group,patients with Ⅰ+Ⅱ genotype was associated with increased WHR compared with those with Ⅱ/Ⅱ genotype(0.91?0.05 vs 0.86?0.03,P=0.047).Logistic regression analysis showed that WHR was independently correlated with ob gene polymorphisms(P=0.042).Conclusion: Polymorphisms in ob gene 3′ flanking region are correlated with central obesity in obese patients of Chinese Han ethnicity in Shanghai.