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© Research
Publication : Sexual development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation

New technologies for the identification of novel genetic markers of disorders of sex development (DSD)

Scientific Fields
Diseases
Organisms
Applications
Technique

Published in Sexual development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation - 03 Jul 2010

Bashamboo A, Ledig S, Wieacker P, Achermann JC, Achermann J, McElreavey K

Link to Pubmed [PMID] – 20820110

Sex Dev 2010 Sep;4(4-5):213-24

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.

http://www.ncbi.nlm.nih.gov/pubmed/20820110