中华医学遗传学杂志
中華醫學遺傳學雜誌
중화의학유전학잡지
CHINESE JOURNAL OF MEDICAL GENETICS
2009年
1期
95-97
,共3页
王岳平%赵云静%阮强%吉耀华%郝明革%姜卫华
王嶽平%趙雲靜%阮彊%吉耀華%郝明革%薑衛華
왕악평%조운정%원강%길요화%학명혁%강위화
性别发育异常%XX男性综合征%SRY基凶%聚合酶链反应
性彆髮育異常%XX男性綜閤徵%SRY基兇%聚閤酶鏈反應
성별발육이상%XX남성종합정%SRY기흉%취합매련반응
disorders of sex development%XX male syndrome%SRY gene
目的 研究46,XX男性患者的临床表型与性别决定基因(sex determining region,SRY)的关系.方法 应用多重聚合酶链反应(polymerase chain reaction,PCR)及PCR产物直接测序的方法 ,对6例46,XX男性患者的SRY基因进行分析.结果 6例46,XX男性患者中3例SRY基因阳性,测序后无碱基序列变异,无明显的生殖器官畸形;3例患者SRY基因阴性,存在睾丸发育,但有明显的外生殖器官畸形.结论 在性别决定与发育过程中,SRY基因是一个关键的基因,但是还应有其他的重要基因.
目的 研究46,XX男性患者的臨床錶型與性彆決定基因(sex determining region,SRY)的關繫.方法 應用多重聚閤酶鏈反應(polymerase chain reaction,PCR)及PCR產物直接測序的方法 ,對6例46,XX男性患者的SRY基因進行分析.結果 6例46,XX男性患者中3例SRY基因暘性,測序後無堿基序列變異,無明顯的生殖器官畸形;3例患者SRY基因陰性,存在睪汍髮育,但有明顯的外生殖器官畸形.結論 在性彆決定與髮育過程中,SRY基因是一箇關鍵的基因,但是還應有其他的重要基因.
목적 연구46,XX남성환자적림상표형여성별결정기인(sex determining region,SRY)적관계.방법 응용다중취합매련반응(polymerase chain reaction,PCR)급PCR산물직접측서적방법 ,대6례46,XX남성환자적SRY기인진행분석.결과 6례46,XX남성환자중3례SRY기인양성,측서후무감기서렬변이,무명현적생식기관기형;3례환자SRY기인음성,존재고환발육,단유명현적외생식기관기형.결론 재성별결정여발육과정중,SRY기인시일개관건적기인,단시환응유기타적중요기인.
Objective To investigate the relationship between the phcnotypes in XX male patients and the sex determining region(SRY)gene.MethodsMultiple polymerase chain reactions were carried out in 6 male patients with karyotype of 46,XX,and then the PCR products were sequenced directly.Results Three cases of male infertility were positive for the SRY gene withbut evident malformation in their extra genitalia,while 3 cases with testes were negative for the SRY gene,with evident malformation in their extra genitalia.Conclusion The SRY gene is key in sex determination and development,yet there might be other important genes involved.
