两个患有男性假两性畸形的印度家庭中5α-还原酶-2基因突变的分子诊断
Molecular diagnosis of 5alpha-reductase-2 gene mutation in two Indian families with male pseudohermaphroditism.
作者信息
Eunice Marumudi, Philibert Pascal, Kulshreshtha Bindu, Audran Francoise, Paris Francoise, Khurana Madan L, Pulikkanath Praveen E, Kucheria Kiran, Sultan Charles, Ammini Ariachery C
机构信息
Department of Endocrinology and Metabolism, All India Institute of Medical Sciences, New Delhi 110029, India.
出版信息
Asian J Androl. 2008 Sep;10(5):815-8. doi: 10.1111/j.1745-7262.2008.00350.x. Epub 2007 Dec 20.
AIM
To identify the genotype of two Indians with male pseudohermaphroditism.
METHODS
Standard radioimmunoassay procedure was used for estimating hormonal levels. Conventional cytogenetic analysis was carried out for diagnosing the genetic sex in these subjects with genital ambiguity. Molecular analysis was carried out by standard polymerase chain reaction procedure using different sets of primers and reaction conditions specific for the 5alpha-reductase type 2 gene (SRD5A2) gene. Direct sequencing was carried out using the ABI Prism dye terminator sequencing kit and the ABI 310 sequencing apparatus.
RESULTS
We found an SRD5A2 gene mutation in exon 5, where arginine is substituted with glutamine (R246Q), in two males with pseudohermaphroditism and ambiguous genitalia from unrelated families. This is the first time this mutation has been reported in individuals from India.
CONCLUSION
Identification of the R246Q mutation of the SRD5A2 gene from two unrelated Indian families possibly extends the founder gene effect.
目的
鉴定两名患有男性假两性畸形的印度人的基因型。
方法
采用标准放射免疫分析程序估算激素水平。对这些生殖器模糊的受试者进行常规细胞遗传学分析以诊断其遗传性别。通过标准聚合酶链反应程序，使用针对2型5α-还原酶（SRD5A2）基因的不同引物组和反应条件进行分子分析。使用ABI Prism染料终止测序试剂盒和ABI 310测序仪进行直接测序。
结果
我们在两名来自无亲缘关系家庭、患有假两性畸形和生殖器模糊的男性中，发现第5外显子存在SRD5A2基因突变，其中精氨酸被谷氨酰胺取代（R246Q）。这是该突变首次在印度个体中被报道。
结论
在两个无亲缘关系的印度家庭中鉴定出SRD5A2基因的R246Q突变，可能扩展了奠基者基因效应。
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