FAMILIAL GONADAL DYSGENESIS

描述（改编自申请人的描述）：性别决定是一种 人类发展的基本过程。易患多种疾病的体质 是受男性还是女性的影响。此外，约有1 每一千个活产婴儿中就有一个性腺发育异常 （性腺发育不全）。最常见的情况是缺乏SRY基因， SRY基因突变，或SRY基因信号传递失败， 但在许多情况下，遗传基础并不清楚。基于 假设性反转的家族性病例是由基因突变引起的， 睾丸决定途径中的常染色体或X连锁基因，申请人 建议通过遗传连锁来鉴定这样一个基因， 串联重复序列（STR）在一个大家庭中多次出现纯或 部分性腺发育不全这项工作应有助于更好地了解 正常和异常性别决定的机制。

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.