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先天性无阴道综合征(Mayer-Rokitansky-Küster-Hauser,MRKH综合征)是一种主要表现为子宫和阴道上段缺失的先天性女性生殖道畸形,人们通过研究表明此病可能有家族聚集性,并通过候选基因法、全基因组扫描法和表观遗传学研究,筛选出了一些环境中致生殖系统发育异常的物质和基因及表观遗传学改变。但多数候选基因缺乏在不同种族人群大样本病例中验证的证据;全基因组扫描和表观遗传学研究在寻找MRKH综合征相关基因中的应用还处于初级阶段,迄今MRKH综合征的病因尚不明确。
Mayer-Rokitansky-Küster-Hauser (MRKH syndrome) is a congenital female genital tract deformity that is mainly characterized by loss of the uterus and upper vagina. Studies have shown that the disease may have familial aggregation, And through the candidate gene method, genome-wide scanning method and epigenetic studies, selected some of the environment caused by reproductive system dysplasia material and gene and epigenetic changes. However, the majority of candidate genes lacked evidence of validation in large sample populations of different ethnic groups; the use of genome-wide and epigenetic studies in finding MRKH-associated genes is still in its infancy and so far the etiology of MRKH syndrome has not been established .