GLI1基因rs10783826位点多态性与新生儿先天性心脏病的关联性分析

doi:10.11852/zgetbjzz2016-24-05-20

中国儿童保健杂志 ›› 2016, Vol. 24 ›› Issue (5): 512-514.DOI: 10.11852/zgetbjzz2016-24-05-20

GLI1基因rs10783826位点多态性与新生儿先天性心脏病的关联性分析

胡健伟¹,韩霞¹,严卫丽²,钱琰琰²,张奕²,杨文红¹

1 昆山市妇幼保健所,江苏昆山 215300;
2 复旦大学附属儿科医院,上海 201102

收稿日期:2015-05-20 发布日期:2016-05-10 出版日期:2016-05-10
通讯作者: 杨文红,E-mail:627286219@qq.com
作者简介:胡健伟,女,山东人,主治医师,主要研究方向为妇幼群体保健。
基金资助:
昆山市社会发展科技计划项目(KS1237)

Association analysis between rs10783826 of GLI1 gene and congenital heart disease in newborn.

HU Jian-wei¹,HAN Xia¹,YAN Wei-li²,QIAN Yan-yan²,ZHANG Yi²,YANG Wen-hong¹.

1 Department of Public Health,Institution of the Maternal and Children Health Care in Kunshan,KunShan,Jiangsu 215300,China;
2 Children's Hospital of Fudan University,Shanghai 201122,China

Received:2015-05-20 Online:2016-05-10 Published:2016-05-10
Contact: YANG Wen-hong,E-mail:627286219@qq.com

摘要/Abstract

摘要： 目的在前期工作定位的先天性心脏病(CHD)易感区域内,选取GLI1 基因编码区内的1个已知单核苷酸多态(SNP):rs10783826,检测其在CHD新生儿和正常健康新生儿中的分布情况,分析其与CHD的相关性。方法采用病例对照研究,选择90名CHD新生儿(病例组)和90名健康新生儿(健康对照组)。应用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)分析技术进行GLI1基因rs10783826位点多态性检测,分析该多态位点基因型频率和等位基因频率在病例组和对照组的分布,比较该位点不同基因型与CHD患病风险的关系。应用SAS9.2软件进行统计学分析。结果 GLI1基因的多态性位点rs10783826基因型频率和等位基因频率在病例组与对照组之间差异无统计学意义(χ²=0.75,P=0.68),且等位基因T携带者与等位基因G携带者在患CHD的风险上差异无统计学意义(χ²=1.40,P=0.23)。结论 GLI1基因rs10783826多态性与CHD不存在相关性。该等位基因对先心病尚不构成影响。

关键词: GLI1, 基因多态性, 先天性心脏病, 新生儿

Abstract: Objective To investigate the distribution of rs10783826,one single nucleotide polymorphisms (SNPs) in the coding-region of GLI1 gene,in Kunshan area,and determine the relationship between GLI1 gene and congenital heart disease (CHD). Methods Genotypes of the SNP were analyzed in 90 CHD patients and 90 normal controls by Denatured High Performance Liquid Chrom atography (DHPLC) and sequencing from August 2011 to May 2013.χ² test was applied to analyze the genotype frequency and allele frequency be tween CHD groups and control groups. Results The rs10783826 of GLI1 gene was not statistically different between the CHD group and the control group(χ²=0.75,P=0.68),and the T allele carriers had no statistical difference between G allele carriers during CHD groups and control groups(χ²=1.40,P=0.23). Conclusions GLI1 gene rs10783826 polymorphism is not associated with CHD.The allele is not affect CHD in newborn.

Key words: glioma associated oncogene homolog1, polymorphism, congenital heart disease, newborn

中图分类号:

R179

胡健伟,韩霞,严卫丽,钱琰琰,张奕,杨文红. GLI1基因rs10783826位点多态性与新生儿先天性心脏病的关联性分析[J]. 中国儿童保健杂志, 2016, 24(5): 512-514.

HU Jian-wei,HAN Xia,YAN Wei-li,QIAN Yan-yan,ZHANG Yi,YANG Wen-hong.. Association analysis between rs10783826 of GLI1 gene and congenital heart disease in newborn.[J]. journal1, 2016, 24(5): 512-514.

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GLI1基因rs10783826位点多态性与新生儿先天性心脏病的关联性分析

Association analysis between rs10783826 of GLI1 gene and congenital heart disease in newborn.

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