FAMILIAL GONADAL DYSGENESIS

描述(根据申请者的描述改编)：性别鉴定是一项 人类发展的基本过程。对多种疾病的易感性 会受到男性或女性的影响。此外，大约有一个 每1000名活产婴儿中就有性腺发育异常 (性腺发育不良)。最常见的情况是缺乏SRY基因， SRY基因突变，或未能传递SRY基因的信号， 但在许多情况下，遗传基础并不清楚。基于 假设家族性反转病例是由基因突变引起的 睾丸决定途径的常染色体或X连锁基因，申请人 建议通过与多态Short的遗传连锁来鉴定这样的基因 串联重复序列(STR)在一个大家族中多次出现纯或 部分性腺发育不全。这项工作应该会使我们更好地理解 性别决定正常和异常的机制。

DESCRIPTION (Adapted from applicant's description): Sex determination is a fundamental process in human development. The predisposition to many diseases is affected by whether one is male or female. In addition, approximately one in every one thousand live-born infants has abnormal gonadal development (gonadal dysgenesis). Most commonly this occurs from absence of an SRY gene, mutation of the SRY gene, or failure to transmit the signal of the SRY gene, but in many cases, the genetic basis is not understood. Based on the hypothesis that familial cases of sex reversal are caused by mutations in an autosomal or X-linked gene in the testis determining pathway, the applicant proposes to identify such a gene by genetic linkage to polymorphic short tandem repeats (STRs) in a large family with multiple occurrences of pure or partial gonadal dysgenesis. This work should lead to a better understanding of the mechanisms of normal and abnormal sex determination.