实用妇产科杂志2011，Vol.27Issue(4)：295-297,3.
8例含Y染色体性腺发育不全患者的SRY基因分析
Molecular Analysis of SRY Gene in Eight Gonadal Dysplasia Patients with Y Chromosome
周慧梅 1姚凤霞 1田秦杰1
作者信息
- 1. 中国医学科学院北京协和医学院北京协和医院,北京,100730
- 折叠
摘要
Abstract
Objective: To study the molecular mechanism of gonadal dysplasia female patients with Y chromosome. Methods: PCR amplification and DNA sequencing technique were used to analyze the SRY gene of eight female patients. Results:All eight patients had SRY gene. SRY gene mutations were found in two cases, including one novel point mutation (G was substituted by C at 272 point) and one known mutation (G was substituted by T at 192 point). Conclusions:The study provides molecular mechanism of gonadal dysgenesis by SRY gene analysis.关键词
Y染色体/性腺发育不全/SRY/突变分类
社会科学引用本文复制引用
周慧梅,姚凤霞,田秦杰..8例含Y染色体性腺发育不全患者的SRY基因分析[J].实用妇产科杂志,2011,27(4):295-297,3.
