CAJ | 학술논문

目的分析1例46,XY女性性反转综合征患者的性别决定基因SRY(sex-determining region of Y chromosome)的突变类型,探讨该患者发生性反转的分子机制.方法收集患者临床资料,抽取静脉血.体外培养外周血淋巴细胞.采用染色体G显带分析患者核型.提取患者外周血DNA,采用PCR扩增SRY基因,并将回收产物直接测序.结果患者核型为46,XY.PCR检测患者存在SRY基因.DNA序列分析显示患者SRY基因编码区第6位碱基缺失,发生移码突变,导致编码SRY蛋白第9位亮氨酸(L)的第2位碱基T、第3位碱基A与编码第10位丝氨酸(S)的第1位碱基A组合成为终止密码TAA,翻译过程提前终止,导致SRY蛋白缺乏.结论 SRY基因编码区第6位碱基缺失导致翻泽过程提前终止,患者不能合成完整的SRY蛋白,使其在胚胎期发生性逆转.
목적 분석1례46,XY녀성성반전종합정환자적성별결정기인SRY(sex-determining region of Y chromosome)적돌변류형,탐토해환자발생성반전적분자궤제.방법 수집환자림상자료,추취정맥혈.체외배양외주혈림파세포.채용염색체G현대분석환자핵형.제취환자외주혈DNA,채용PCR확증SRY기인,병장회수산물직접측서.결과 환자핵형위46,XY.PCR검측환자존재SRY기인.DNA서렬분석현시환자SRY기인편마구제6위감기결실,발생이마돌변,도치편마SRY단백제9위량안산(L)적제2위감기T、제3위감기A여편마제10위사안산(S)적제1위감기A조합성위종지밀마TAA,번역과정제전종지,도치SRY단백결핍.결론 SRY기인편마구제6위감기결실도치번택과정제전종지,환자불능합성완정적SRY단백,사기재배태기발생성역전.
Objective To investigate the molecular mechanism of sex reversal in a 46,XY female patient.Methods Clinical data was collected.Peripheral blood lymphocytes were cultured for G-banding chromosomal analysis and DNA extraction.Sex-determining region of Y-chromosome (SRY) gene was analyzed with polymerase chain reaction (PCR) and DNA sequencing.Results Although the patient has a female appearance,he has a karyotype of 46,XY.The SRY gene can be detected in all samples.The 6th base of SRY gene coding region was deleted,resulting in a frameshifting mutation and premature termination of protein translation.Conclusion The sex reversal of the patient is probably due to abnormal embryonic development caused by the SRY gene mutation.