特发性低促性腺激素型性腺功能减退患者KAL1基因突变分析  

Mutation of the KAL1 gene in 30 male patients with idiopathic hypogonadotropic hypogonadism

作　　者：马超[1] 蒋召志[1] 李学付[1] 云馨[1] 付超[1] 刘睿智[1] 

机构地区：[1]吉林大学第一医院生殖医学中心,吉林长春130021

出　　处：《中华男科学杂志》2011年第1期32-37,共6页National Journal of Andrology

基　　金：吉林省科技发展规划项目(200705371)~~

摘　　要：目的:分析男性特发性低促性腺激素型性腺功能减退(IHH)患者KAL1基因突变。方法:30例IHH患者运用聚合酶链反应-单链构象多态性(PCR-SSCP)结合PCR产物直接测序技术分析KAL1基因外显子突变。结果:在30例IHH患者中共发现3例KAL1基因突变,其中1例无义突变,为(c.1270C>T,p.R424X);2例移码突变,分别为(c.279_280delAG,p.G94fs)和(c.1886_1887delTT,p.L629fs)。结论:本文检测到3例KAL1基因突变,其中2例突变是新发现的突变,1例是文献报道过的突变,为IHH的分子遗传学研究积累了宝贵资料。Objective：To analyze the mutation of the KAL1 gene in male patients with idiopathic hypogonadotropic hypogonadism（IHH）.Methods：We analyzed the exon mutation of the KAL1 gene in 30 IHH patients using polymerase chain reaction-single strand conformation polymorphism（PCR-SSCP） combined with the PCR product direct sequencing technique.Results：Three cases of the KAL1 gene mutation were found among the total number of patients,including 1 case of nonsense mutation（c.1270CT,p.R424X）,and 2 cases of frameshift mutation,（c.279_280delAG,p.G94fs） and（c.1886_1887delTT,p.L629fs）.Conclusion：Of the 3 cases of the KAL1 gene mutation we detected,2 are new and 1 already reported in the literature.The results of our study have provided valuable information on the molecular genetics of the IHH syndrome.

关 键 词：特发性低促性腺激素型性腺功能减退症 KALLMANN综合征 KAL1基因 突变 

分 类 号：R588[医药卫生—内分泌]