生物
葡萄糖-6-磷酸脱氢酶缺乏症
突变
基因
遗传学
葡萄糖-6-磷酸脱氢酶
基因型
分子生物学
基因突变
内科学
聚合酶链反应
等位基因
作者
Tonghua Wu,Yuanchang Zhu,Chunmei Chen,Qi Lin,Shuqiu Shen,Yanling Lu,Yong Zeng,Biao Yin
出处
期刊:Chinese journal of medical genetics
日期:2014-02-01
卷期号:31 (5): 97-100
被引量:1
标识
DOI:10.3760/cma.j.issn.1003-9406.2014.01.023
摘要
OBJECTIVE: To explore the incidence and genotypes of glucose-6-phosphate dehydrogenase (G6PD) gene mutations among infertile patients in Shenzhen. METHODS: DNA samples from 851 infertile patients were tested for 25 G6PD gene mutation sites using a multiplex SNaPshot assay. RESULTS: 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. CONCLUSION: 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.
科研通智能强力驱动
Strongly Powered by AbleSci AI