New Technologies for the Identification of Novel Genetic Markers of Disorders of Sex Development (DSD)

被引：42

作者：

Bashamboo, A. ^{[1
]}

Ledig, S. ^{[2
]}

Wieacker, P. ^{[2
]}

Achermann, J. ^{[3
]}

McElreavey, K. ^{[1
]}

机构：

[1] Inst Pasteur, Human Dev Genet Unit, FR-75724 Paris 15, France

[2] Univ Munster, Inst Human Genet, D-4400 Munster, Germany

[3] UCL Inst Child Hlth, Dev Endocrinol Res Grp, Clin & Mol Genet Unit, London, England

来源：

SEXUAL DEVELOPMENT | 2010年 / 4卷 / 4-5期

基金：

英国惠康基金;

关键词：

Comparative genomic hybridization; Disorders of sex development; High-throughput sequencing; Next generation sequencing; COMPARATIVE GENOMIC HYBRIDIZATION; COPY NUMBER VARIATION; 46; XY GONADAL-DYSGENESIS; HIGH-RESOLUTION ANALYSIS; KB DELETION UPSTREAM; PARTIAL DUPLICATION; STRUCTURAL VARIATION; EXON CAPTURE; REVERSAL; SRY;

D O I：

10.1159/000314917

中图分类号：

Q [生物科学];

学科分类号：

07 ; 0710 ; 09 ;

摘要：

Although the genetic basis of human sexual determination and differentiation has advanced considerably in recent years, the fact remains that in most subjects with disorders of sex development (DSD) the underlying genetic cause is unknown. Where pathogenic mutations have been identified, the phenotype can be highly variable, even within families, suggesting that other genetic variants are influencing the expression of the phenotype. This situation is likely to change, as more powerful and affordable tools become widely available for detailed genetic analyses. Here, we describe recent advances in comparative genomic hybridisation, sequencing by hybridisation and next generation sequencing, and we describe how these technologies will have an impact on our understanding of the genetic causes of DSD. Copyright © 2010 S. Karger AG, Basel.

引用

页码：213 / 224

页数：12

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