INSL-3基因QPLPQ序列突变与隐睾  

Mutations of QPLPQ of INSL-3 Associated with Cryptorchidism

作　　者：李学勤[1] 高文英[2] 陈悦[2] 佟彤[2] 詹江华[3] 宫济春[3] 

机构地区：[1]天津医科大学研究生院,300070 [2]天津市儿童医院儿研所遗传室 [3]天津市儿童医院普外科

出　　处：《天津医药》2009年第2期117-119,共3页Tianjin Medical Journal

摘　　要：目的:探讨INSL-3基因突变与隐睾发生的相关性及其发生机制。方法:选取临床资料完整的隐睾患者60例,正常对照组(无先天性疾患)15例,提取人外周血白细胞基因组DNA,经聚合酶链式反应(PCR)扩增INSL-3基因2个完整外显子,并行基因纯化、测序,根据试验结果分析其基因突变与隐睾发生的关系,并从分子生物学角度解析其相关发病机制。结果:隐睾患者组检出2例276G/T杂合突变,1例477G/C杂合突变,276G/T杂合突变使其编码的92位谷氨酰胺变为组氨酸,从而引起其编码蛋白一级结构的改变,477G/C突变点不在编码序列之内,不引起编码氨基酸改变。隐睾患者组基因突变率为5.0%(3/60),正常对照组未见突变发生。结论:Q92H可能为致隐睾发生相关位点,而QPLPQ序列突变值得引起关注。Objective： To explore the relationship between Cryptorchidism （CO） patients and the mutation of INSL-3 and the correlated mechanisms. Methods： Blood samples were obtained from 60 patients with CO and 15 healthy controls ,respectively.Genomic DNA was extracted from the white blood cells of blood samples.The DNA fragments of 2 exons of INSL-3 were acquired by polymerase chain reaction （PCR） amplification.Direct DNA sequencing was carried out after purification. The mutation and relevant mechanism from molecular biology were analyzed.Results： We identified 2 INSL-3 variants, including 276G/T and 477G/C, in 3 of the 60 patients （5.0%）. 276G/T led Glutamine to Histidine. 477G/C was not in the coding sequences, and did not induce the change of amino acid. The mutation rate in patients with CO was 5.0% （3/60）, and there was no mutation in the controls. Conclusion： Q92H may be a relative site responsible for CO, and more attention should be paid to QPLPQ mutation.

关 键 词：隐睾 胰岛素 基因 突变 

分 类 号：R978[医药卫生—药品] R697.22[医药卫生—药学]