The (TAAAA) in polymorphism of sex hormone-binding globulin gene is not associated with testicular maldescent.
The (TAAAA) in polymorphism of sex hormone-binding globulin gene is not associated with testicular maldescent.
复制标题
性激素结合球蛋白基因多态性(TAAAA)与睾丸不良无关。
DOI：
10.1111/j.1439-0272.2012.01306.x
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发表时间：
2013
期刊：
影响因子：
2.4
通讯作者：
Georgiou I.
中科院分区：
文献类型：
--
作者：
Mamoulakis C;Sofikitis N;Tsounapi P;Vlachopoulou E;Chatzikyriakidou A;Antypas S;Tzortzakakis D;Sofras F;Takenaka A;Georgiou I.
本研究的目的是探讨性激素结合球蛋白基因近端启动子（TAAAA）n多态性与睾丸发育不良（TMD）的潜在关联/遗传连锁。从487名受试者（174个索引家庭）的外周血中提取基因组DNA：（i）180名具有所有TMD表型的儿童，（ii）307名父母（156名母亲和151名父亲）。将常规聚合酶链反应扩增产物在10%非变性聚丙烯酰胺凝胶上进行电泳，并通过银染色进行可视化。在排除了模糊的父母-孩子三人组和大多数缺失父母基因型的索引家庭的情况下，留下429个个体进行分析：138个完全分型的核心家庭（5个包括第二个受影响的孩子）和5个孩子-父母夫妇（一个父母缺失）。8例父亲有TMD病史，共156例TMD患者。采用基于受累家族的对照方法和基于logistic回归的多等位基因位点传递不平衡检验扩展分析等位基因。（TAAAAA）n多态性分析显示基于重复数的六个等位基因（n = 5 - 10）。未发现（TAAAA）n多态性与TMD之间存在关联或遗传连锁。应该调查其他因素，以潜在地解释这些患者中至少一个亚组似乎存在的遗传易感性。
The aim of this family‐based study was to investigate the potential association/genetic linkage of the (TAAAA)npolymorphism of sex hormone‐binding globulin gene proximal promoter with testicular maldescent (TMD). Genomic DNA was extracted from the peripheral blood of 487 subjects (174 index families): (i) 180 children with all phenotypes of TMD, (ii) 307 parents (156 mothers and 151 fathers). Conventional polymerase chain reaction amplification products were electrophoresed on 10% nondenaturating polyacrylamide gel and visualised by silver staining. After excluding ambiguous parental–child trios and most cases of index families with missing parental genotypes, 429 individuals were left for analysis: 138 completely typed nuclear families (five included a second affected child) and five child–parent couples (one parent missing). Eight fathers presented history of TMD, that is, a total of 156 cases with TMD were analysed. Alleles were analysed with the affected family‐based control method and logistic regression‐based extension of the transmission disequilibrium test for multiallelic loci. (ΤΑΑΑΑ)npolymorphism analysis revealed six alleles based on repeat numbers (n= 5–10). No association/genetic linkage between the (TAAAA)npolymorphism and TMD was detected. Other factors should be investigated to potentially explain the genetic predisposition that seems to exist in at least a subgroup of these patients.