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SRY基因诊断在临床中的应用 被引量:23

Clinical Application of SRY gene diagnosis.
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摘要 本文应用聚合酶链式反应(PCR)扩增技术,对10例染色体核型为46,XY和1例为46,XX/46,XY的性反转、睾丸女性化、两性畸形及男性生殖器发育不良的患者进行了性别决定区(SRY)基因检测。结果9例46,XY和1例46,XX/46,XY患者的SRY基因存在,1例46,XY女性患者的SRY基因缺失。该结果表明,采用分子生物学技术对性反转、性发育异常的病因可进行分析。 Using PCR amplification technique,we have analysed the SRY gene of eleven patients with sex reversal testicular feminization,hermaphrodism,male dysgenitalism.the results showed that the SRY gene was deleted in one 46,XY female patient.The other ten patients had normal SRY gene sequece.This results have proved that we could analysed the cause of sex reversal and male dysgenitalism by using molecular biology method.
出处 《中国优生与遗传杂志》 1999年第3期34-35,共2页 Chinese Journal of Birth Health & Heredity
关键词 SRY基因 PCR 性反转 睾丸女性化 基因诊断 SRY gene,Polymerase chain reaction,Sex reversal,Testicular feminization syndrome,Male dysgenitalism. (Original article on page 34)
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