人SRY基因核心序列的扩增和分析

Amplification and Analysis of the Highly Conserved Region of Human SRY Gene

根据人SRY基因序列,设计合成一对引物,在男性DNA中特异扩增一条422 bp的DNA片段,而女性中无任何扩增带出现。进一步将该片段克隆,限制性内切酶分析和测序表明,扩增片段就是SRY基因的保守区。随后利用其作探针进行分子杂交,在男性DNA中获得一个约12kb的带,与文献相一致。因此,利用该引物或克隆片段,在临床上可用于性连锁遗传病的产前诊断和性分化异常个体的研究。

Amplification of human sex-determining gene SRY was applied for sex determination of human peripheral blood. A 422-bp male-specific amplifying fragment was obtained. Going a step further,the fragment was cloned. The restriction enzyme analysis,Southern blot and DNA sequencing indicated that the fragment was the highly conserved region of SRY gene. So it will be clinical suitable for gene diagnosis of sex-linked genetic disorders and sex reversal patients by PCR or hybridization.