SRD5A2 gene mutations--a population-based review.
SRD5A2 gene mutations--a population-based review.
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发表时间：
2010-09
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通讯作者：
R. Samtani;M. Bajpai;Pradeep Kumar Ghosh;K. Saraswathy
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作者：
R. Samtani;M. Bajpai;Pradeep Kumar Ghosh;K. Saraswathy
类固醇5 α-还原酶2型（SRD 5A 2）基因突变的知识正在扩大，其作用已涉及各种疾病的易感性有关生殖健康。广泛的研究已经揭示了特定SRD 5A 2基因突变的趋势是沿着沿着某些种族、民族和地理上孤立的群体传递，这表明这些突变的群体特异性。该综述提供了SRD 5A 2基因突变谱变异的证据，导致特定人群特征性疾病或表型表达的高患病率。
Knowledge of steroid 5 alpha-reductase type 2 (SRD5A2) gene mutations is expanding, and its role has been implicated in various disease susceptibilities concerning reproductive health. Extensive research has revealed the tendency for specific SRD5A2 gene mutations to be passed along certain racial, ethnic and geographically isolated groups, which suggests population specificity of these mutations. The review provides evidence of variation in the mutational spectrum of the SRD5A2 gene leading to population-specific high prevalence of characteristic disease or phenotypic expression.