Identification of genes responsible for disorders of sexual development using genome-wide copy number analysis

性腺发育或解剖性行为异常的先天性疾病令人惊讶地常见。这些问题的根本原因通常是负责睾丸或卵巢正常发育的基因失败。只有一小部分患者可以用已知的性腺决定基因突变来解释。我们将在非常高密度的微阵列上分析这些患者的DNA，以识别导致睾丸或卵巢发育异常的新基因。

Congenital conditions in which development of the gonads or anatomical sex is abnormal are surprisingly common. The underlying cause of these problems is most often the failure of genes responsible for the proper development of testes or ovaries. Only a small proportion of patients can be explained by mutations in known gonad determining genes. We will analyse DNA from these patients on very high density microarrays to identify new genes that cause abnormalities in testis or ovary development.