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目的探讨性反转综合征的发生与性别分化相关基因SRY、WT1及SOX9之间的关系。方法收集4例46,XY女性患者,1例46,XX男性患者及18例核型性别一致的正常人,进行染色体核型分析、Y染色体微缺失、PCR及Sanger测序检测。结果 4例46,XY女性患者Y染色体无片段缺失,SRY基因阳性且无突变,3例患者的WT1基因8号外显子(CHM11:32396408)发现纯合同义突变(A>G),1例患者的SOX9基因3号外显子检测出SNP(CHM17:72124410,A>C)。46,XX男性患者Y染色体微缺失结果:SRY、ZFY、s Y123和s Y127基因出现目的条带;且SRY基因无突变。结论本研究中,4例46,XY女性患者无SRY基因突变;WT1基因的突变和SOX9的SNP不是造成性反转综合征的常见原因。除了SRY、WT1和SOX9基因之外,还有其它基因的突变可以造成XY患者性反转。SRY基因阳性是XX患者发育成男性的原因。
Objective To investigate the relationship between sex reversal syndrome (SRS) and sexual differentiation related genes SRY, WT1 and SOX9. Methods Four cases of 46, XY female patients, one case of 46, XX male patients and 18 cases of normal sex matched karyotype were collected for chromosome karyotype analysis, Y chromosome microdeletion, PCR and Sanger sequencing. Results There were no Y chromosome deletions and no SRY gene mutations in 46 cases of XY female patients. The homozygous synonymous mutations (A> G) were found in 3 cases of WT1 gene exon 8 (CHM11: 32396408), one case The exon 3 of SOX9 gene detected SNP (CHM17: 72124410, A> C). 46, XX male patients with Y chromosome microdeletions results: SRY, ZFY, s Y123 and s Y127 gene appears the purpose of the band; and SRY gene without mutation. Conclusions In this study, no SRY gene mutation was found in 4 cases of 46, XY female patients; mutations of WT1 gene and SOX9 SNPs were not common causes of reversal syndrome. In addition to the SRY, WT1 and SOX9 genes, there are other gene mutations that can cause XY patients with sexual inversion. The positive result of SRY gene is the reason why XX patients develop into men.