摘要
目的
寻找尿道下裂遗传易感性的基因,特别是FGFR2基因的多态性与尿道下裂发病的相关性,探讨FGFR2基因单核苷酸多态位点rs2981582与尿道下裂的关系。
方法
收集2007年至2009年在中国医科大学附属盛京医院小儿外科确诊后实施手术并且无其他畸形的尿道下裂患者188例,作为实验病例组。无任何先天畸形的健康儿童118例做为正常对照组,收集血液样本,提取基因组DNA。设计针对FGFR2基因rs2981582位点的PCR引物、进行聚合酶链反应——限制性片段长度多态性方法(PCR-RFLP)分析尿道下裂患者及正常人群中的基因分型。两组间变量比较采用卡方检验,P<0.05有统计学意义。
结果
我国北方儿童FGFR2基因rs2981582位点的基因型以C/C为主,占78.81%,C/T基因型占21.19%,本组未检测到T/T基因型。两种基因型频率在北方儿童尿道下裂中分别为C/C基因型150例,占87.77%, C/T基因型23例,占12.23%；正常对照组中C/C基因型93例,占78.81%, C/T基因型25例,占21.19%。两组之间的基因型频率分布比较有差异,X2=4.396,P=0.028。
结论
在所研究的人群中,FGFR2单核苷酸多态性位点rs2981582位点与尿道下裂的发病相关,FGFR2基因的rs2981582位点的基因型多态性可能是尿道下裂的致病因素之一。
Objective
To investigate the association between FGFR2 gene rs2981582 single nucleotide polymorphism and hypospadias in Chinese patients.
Methods
To collect 188 patients and 118 healthy individuals'DNA, design PCR primer.Genotyping of FGFR2 gene rs2515733 performed in 188 patients with and 118 healthy individuals by PCR-RFLPassay respectively.
Results
The rs2981582 genotypes in the hypospadias patients consisted of homozygote 150(87.77%) C/C,23 (12.23%) C/T, while The genotypes in the controls were composed of 93 (78.81%) C/C,25 (21.19%) C/T. Significant difference was found in the distribution of rs2981582 genotypes between the two groups (X2 =4.396 P=0.028).
Conclusion
There may be association between the FGFR2 gene rs2981582 SNP and hypospadias in Chinese northern population.
引文
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