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先天性尿道下裂与SRD5A2及SRY基因突变关系研究 |
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周李 梅骅 刘唐彬 光炜
【摘要】 目的 探讨中国人先天性尿道下裂的发生与5α-还原酶2(SRD5A2)基因突变及SRY基因突变的关系。方法 收集先天性尿道下裂患儿静脉血23例，抽提DNA。经PCR分别扩增SRD5A2基因的第1至第5外显子及SRY基因的DNA片段。对各扩增片段采用单链构象多态性诊断法(PCR-SSCP)，筛选基因突变标本，有电泳异常的标本进行测序分析。结果 经PCR-SSCP发现3例SRD5A2基因的第4外显子DNA扩增片段电泳带位置异常，经DNA序列分析证实2例为纯合子型第227位密码子由CAA替代CGA(Arg227Gln)；1例为双重杂合子型突变，第227位密码子由CAA替代CGA，同时第186位密码子由TTG替代TTT(Phe186Leu)。PCR-SSCP检测SRY基因片段未发现异常电泳带。结论 SRD5A2基因突变，可能是先天性尿道下裂的病因之一，SRD5A2基因的第227位密码子可能为中国人该基因的突变热点，而尿道下裂中SRY基因的突变少见。
【关键词】 尿道下裂 SRD5A2基因 SRY基因 男性假两性畸形
Identification of mutations of SRD5A2 gene and SRY gene in patients with hypospadias
ZHOU Li*, MEI Hua, LIU Tangbin,GUANG Wei.
* Department of Pediatric Surgery, the First Affiliated Hospital of Sun Yat-Sen University of Medical Sciences, Guangzhou, 510080 P.R.China. E-mail:[email protected]
【Abstract】 Objective To identify possible molecular mechanism underlined hypospadias and any relationship of the mutations of SRD5A2 gene and SRY gene to hypospadias.Methods Twenty-three blood samples from the patients with hypospadias were obtained from Aug. 1996 to Jan. 1998. DNA was extracted from blood leukocytes. Exons 1 to 5 of the SRD5A2 gene and exon of the SRY gene were amplified by PCR. Mutation detection was performed using PCR-SSCP/silver staining and direct DNA sequencing.Results In 3 cases (named 5R2-China-1,5R2-China-2,and 5R2-China-3), DNA sequencing revealed that a homozygous change from nucleotide G to A occurred in 5R2-China-1 and 2, leading to a substitution of glutamine to arginine in the codon 227 (Arg 227 to Gln). In the third patient (5R2-China-3), DNA sequencing revealed two different heterozygous mutations (Arg 227 to Gln, Phe 186 to Leu) in exon 4 of the SRD5A2 gene. No mutation of SRY gene was found in all patients. Conclusion The mutation of SRD5A2 gene affects the differentiation of the external genitalia and may play a role in the etiology of hypospadias. Since no mutation [1] [2] 下一页
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