摘要
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 study SRY gene and SOX9 gene＇s clinical value in diagnosis for the patients with sexual abnormality. Methods ： Chromosomes analysis and amplify the SRY gen and SOX9 gene exonl with PCR. Results ： The chromosomes of two cases is not abnormal; the SRY gene of casel is deletion, and the SOX9 gene exonl is not abnormal; the SRY gene of case2 is not abnormal and SOX9 gene exonl is partial deletion. Conclusion： The deletion of SRY gene plays a certain role in casel＇s sexual abnormality and the SOX9 gene exonl partial deletion plays a certain role in case2＇s sexual abnormality.
出处
《中国优生与遗传杂志》
2011年第11期26-28,共3页
Chinese Journal of Birth Health & Heredity
基金
福建省卫生厅青年科技项目(2009-1-48)
福建省卫生厅医这创新课题(2009-CXB-41)
福建省科技计划重点项目(2009Y0050)
