Study on the association of IL-10-592 polymorphism with susceptibility to hepatitis B viral infection in Han, Yi and Yao ethnic groups in Guizhou province / 中华流行病学杂志

Objective To investigate the association of IL-10 gene promoter polymorphism with susceptibility to hepatitis B viral infection in Han, Yi and Yao ethnic groups from Guizhou province.Methods Five hundred volunteers from Guizhou province were selected to undertake PCR-RFLP for detection of IL-10 gene promoter -592 polymorphisim. Results The genotypic distributions of IL-10-592 were 32.53%- 51.43% (AA),40.74%-54.82% (AC),5.79%-18.52% (CC) whereas the allelic frequencies were 59.94% -72.38% for the A allele, and 27.62%-40.06% for the C allele in Han, Yi and Yao ethnics from Guizhou. The distributions of allele and genotype frequencies of IL-10-592 were statistically different between Yao ethnic in Libo and Yi ethnic in Qianxi, Yao ethnic in Libo and Han ethnic in Libo, Yi ethnic in Qianxi and Yi ethnic in Weining, Yi ethnic in Weining and Han ethnic in Libo (P ＜0.05). IL-10-592 polymorphism was associated with HBV infection in Yi ethnic in Qianxi and the whole population. Conclusion IL-10-592 gene polymorphisms influenced the susceptibility to HBV infection in Han, Yao, Yi sub-populations in Guizhou. Result of the study suggested that IL-10-592 gene polymorphisms might serve as a risk factor to HBV infection.

Frequencies of GSTM1, GSTT1, and GSTP1 polymorphisms in ethnic minority from Guizhou / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To investigate the frequencies of GSTM1, GSTT1 and GSTP1 polymorphisms in Dong, Yi and Yao ethnic groups from Guizhou.</p><p><b>METHODS</b>In 321 volunteers who were population-based, GSTM1 and GSTT1 polymorphisms were analyzed by a multiplex-PCR procedure, whereas GSTP1 polymorphism was analyzed by PCR-RFLP method.</p><p><b>RESULTS</b>Null genotype for GSTM1 and GSTT1 was 59.6%-71.2% and 39.4%-72.5%, respectively. The genotypic distribution of GSTP1 was 63.3%-75% for AA, 23.2%-35.8% for AG, 0-1.9% for GG, whereas the allelic frequencies were 81.2%-86.6% for the A allele, and 13.4%-18.8% for the G allele.</p><p><b>CONCLUSION</b>There is a significant relationship between GSTT1 frequencies and ethnic populations.</p>

G6PD Gene Mutations in Shui people in Sandu of Guizhou / 中国实验血液学杂志

<p><b>UNLABELLED</b>Glucose-6-phosphate dehydrogenase (G6PD) deficiency is the most common human enzymopathy. To date, about 126 mutations in the G6PD gene have been detected, among which 17 mutations were found in Chinese. The most common mutations are: 1376 G-->T and 1388 G-->A, both in exon 12; 95 A-->G in exon 2, which amounted to more than 50% of mutations representing various regions and ethnic groups in China. A large-scale screening and genotypic analysis was held in Shui people in Sandu of Guizhou. To investigate the incidence and the molecular basis of G6PD deficiency of Guizhou Shui people, NBT qualitative and G6PD/6PGD quantitative methods were used to detect G6PD deficiency in 1,090 Shui people from the general people belonging to Sandu of Guizhou. By means of mis-matched primers amplified the G6PD gene, the products were 234 bp, 280 bp and 345 bp in length, then restriction enzyme analysis was used to detect the most common Chinese G6PD mutations, 1376 G-->T, 1388 G-->A and 95 A-->G. The results showed that out of the 1,090 samples, 98 G6PD deficiency samples were found. The incidence of G6PD deficiency was 8.99%. 24 cases of 1376 G-->T, 12 cases of 1388 G-->A, 9 cases of 95 A-->G were detected. A sample with 1376 G-->T and 95 A-->G mutation was found in a girl. It was reported for the first time.</p><p><b>IN CONCLUSION</b>1376 G-->T, 1388 G-->A, 95 A-->G mutations are the common G6PD mutations in Shui people in Sandu of Guizhou. The results indicates that different national minorities of Chinese may originated from a common ancestor.</p>