散发性先天性巨结肠与SOX10基因多态性的关联性

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摘要目的：探讨先天性巨结肠（HD）患者SOX10基因多态性与HD发病风险的关系。方法：收集散发性HD患者外周血标本95例为病例组，同时选取健康无便秘史患者80例作为对照组。提取外周血DNA，采用PCR和直接测序法分析SOX10基因多态性在病例组和对照组的分布情况。结果：直接测序发现SOX10基因有4个单核苷酸多态性位点（SNP），这些位点在病例组和对照组中分布差异无统计学意义，关联分析未发现SOX10基因的4个SNP位点与HD的发病风险相关。结论：SOX10基因的4个SNPs位点与散发HD的发病风险没有显著相关性，SOX10基因可能不是散发性HD患者的易感基因

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关键词 ： SOX10基因；先天性巨结肠；多态性, 单核苷酸

Abstract：Objective: To determine the association between the variations of SOX10 gene and sporadic HD in Zhejiang province. Methods: Blood from 95 sporadic HD cases and 80 normal cases were collected. Direct sequencing and polymerase chain reaction amplification were used to analyze 4 exons of the SOX10 gene for mutations and polymorphisms. Results: In this study, 4 single nucleotide polymorphisms (SNPs) were identified. No SOX10 gene mutations was found with sporadic HD. Conclusion: There is no association between these 4 SNPs of the SOX10 gene and HD. The SOX10 gene may not be the susceptibility gene of HD.

Key words： SOX10 gene hirschsprung disease polymorphism, single nucleotide

收稿日期: 2016-12-26

基金资助:台州市科技计划项目（121ky08）

通讯作者: 於林军，副主任医师，Email：yulj@enzemed.com

作者简介: 罗春芬（1962-），女，浙江台州人，主任医师。

链接本文:

https://xb.wmu.edu.cn/CN/ 或 https://xb.wmu.edu.cn/CN/Y2017/V47/I9/666

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