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

ABSTRACT

<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>