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目的：通过对2例46，XY女性性反转患者的SRY基因分析，从分子水平探讨性分化异常的发病机理。方法：PCR扩增人类SRY基因217bp特异片段，然后直接测定扩增DNA的碱基序列。结果：患者I的SRY基因在-79nt位置上发生A→G点突变，患者II的SRY基因序列正常。结论：SRY基因在性发育过程中起着重要的作用，当SRY基因和与SRY有关联的基因发生变异都可能导致性发育异常。
OBJECTIVE: To investigate the pathogenesis of dysplasia at the molecular level by analyzing SRY gene expression in 2 female patients with XY inversion. Methods: 217bp specific fragment of human SRY gene was amplified by PCR, and then the base sequence of amplified DNA was directly measured. RESULTS: The SRY gene of patient I was found to be A → G point mutation at -79nt, and the SRY gene sequence of patient II was normal. CONCLUSIONS: The SRY gene plays an important role in sexual development. When the SRY gene and the gene associated with SRY are mutated, it may lead to sexual dysplasia.