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目的探讨SRY和SOX9基因在性发育异常基因诊断中的意义。方法染色体核型分析结合PCR扩增SRY基因和SOX9基因第一外显子。结果两病例染色体检查结果均为46,XY,未发现异常;病例1 SRY基因缺失,SOX9基因第一外显子未见异常;病例2 SRY基因未见异常,SOX9基因第一外显子部分缺失。结论 SRY基因缺失是导致病例1发病的原因,SOX9基因第一外显子部分缺失是导致病例2发病的原因。
Objective To investigate the significance of SRY and SOX9 gene in gene diagnosis of sexual dysplasia. Methods Chromosomal karyotype analysis combined with PCR amplified the first exon of SOX9 gene and SRY gene. Results The chromosomal test results of both cases were all 46 and XY. No abnormality was found in case 1, the deletion of SRY gene and no abnormality of the first exon of SOX9 gene in case 2, no abnormality of SRY gene in case 2, partial deletion of the first exon of SOX9 gene . Conclusion The deletion of SRY gene is the reason of the onset of case 1. The deletion of the first exon of SOX9 gene is the reason of case 2.