Molecular analysis of genes on Xp controlling Turner syndrome and premature ovarian failure (POF).
Molecular analysis of genes on Xp controlling Turner syndrome and premature ovarian failure (POF).
复制标题
Xp 控制特纳综合征和卵巢早衰 (POF) 基因的分子分析。
DOI：
10.1055/s-2001-15394
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发表时间：
2001
期刊：
影响因子：
--
通讯作者：
Ross,JL
中科院分区：
文献类型：
--
作者：
Zinn,AR;Ross,JL
X染色体单体性被认为是Turner综合征（TS）的染色体基础已有40多年。大量的细胞遗传学数据表明，大多数TS特征是由于X染色体短臂（Xp）上的基因剂量减少所致。利用分子细胞遗传学和遗传学技术的表型作图研究开始定位对各种TS特征很重要的Xp基因，并且通过人类基因组计划和相关研究，候选基因的全面目录变得可用。现在可以通过对具有特定TS特征的核型正常人进行突变分析来评估单个基因对TS表型的贡献。这一策略已成功地确定了一个与身材矮小有关的基因，并被应用于卵巢早衰和其他TS表型。
Monosomy X has been known to be the chromosomal basis of Turner syndrome (TS) for more than four decades. A large body of cytogenetic data indicates that most TS features are due to reduced dosage of genes on the short arm of the X chromosome (Xp). Phenotype mapping studies using molecular cytogenetic and genetic techniques are beginning to localize the Xp genes that are important for various TS features, and a comprehensive catalog of candidate genes is becoming available through the Human Genome Project and related research. It is now possible to assess the contributions of individual genes to the TS phenotype by mutational analysis of karyotypically normal persons with specific TS features. This strategy has succeeded in identifying a gene involved in short stature and is being applied to premature ovarian failure and other TS phenotypes.