Molecular epidemiology analysis of glucose-6-phosphate dehydrogenase gene mutations among infertile patients in Shenzhen / 中华医学遗传学杂志

ABSTRACT

<p><b>OBJECTIVE</b>To explore the incidence and genotypes of glucose-6-phosphate dehydrogenase (G6PD) gene mutations among infertile patients in Shenzhen.</p><p><b>METHODS</b>DNA samples from 851 infertile patients were tested for 25 G6PD gene mutation sites using a multiplex SNaPshot assay.</p><p><b>RESULTS</b>The incidence of G6PD gene mutations among infertile patients in Shenzhen was 17.63%. Male and female abnormal rates were 15.13% and 20.09% respectively. Most of the female abnormal cases were heterozygotes. Mutations involved 11 haplotypes in 10 sites. 1311C> T/IVS-11 93T> C was the most common mutation, accounting for 72.00% (108/150) abnormal cases. Forty three cases of missense mutations were detected, including 19 cases of 1376G> T, 9 cases of 1388G> A, 5 cases of 95A> G and 871G> A/1311C> T/IVS-11 93T> C, 1 case of 202G> A, 835A> T, 1360C> T, 1376G> T and 392G> T/1311C> T/IVS-11 93T> C.</p><p><b>CONCLUSION</b>The incidence of G6PD gene mutations among infertile patients in Shenzhen was high and the mutation types were various. Therefore, the G6PD deficiency genetic screening should be performed prior to assisted reproduction. This investigated results provided valuable basic data for genetic counseling, preimplantation genetic diagnosis and prenatal diagnosis.</p>