SHH基因突变与先天性肛门直肠畸形的相关性研究

发布时间：2018-03-19 11:38

本文选题：先天性肛门直肠畸形　切入点：SHH基因　出处：《山西医科大学》2017年硕士论文　论文类型：学位论文

【摘要】：目的:本研究通过分析先天性肛门直肠畸形患儿及健康体检儿童SHH基因突变情况,探讨SHH基因突变与山西地区先天性肛门直肠畸形的相关性,为阐明其病因及有效预防其发生提供研究方向及理论依据。方法:收集就诊于山西省儿童医院并确诊为先天性肛门直肠畸形患儿的外周血样本及健康儿童的外周血样本各50例,使用DNA提取试剂盒抽提样本基因组DNA。采用PCR和基因测序的方法对先天性肛门直肠畸形患儿及健康儿童的SHH基因全部外显子进行扩增并测序,然后使用软件分析测序结果。结果:分析测序结果得知,健康组中未发现SHH基因的突变序列。先天性肛门直肠畸形患儿组中共发现3个SHH基因突变位点,分别为:1个1号外显子169(AG)错义突变,2个3号外显子869(GA)错义突变。结论:SHH基因突变可能与山西地区先天性肛门直肠畸形的发生有关,可能是山西地区人群患先天性肛门直肠畸形的易感因素。c869GA可能是山西地区先天性肛门直肠畸形患儿SHH基因突变的热点,尚需进一步的研究进行证实。
[Abstract]:Objective: to investigate the relationship between SHH gene mutation and congenital anorectal malformation in Shanxi province by analyzing the mutation of SHH gene in children with congenital anorectal malformation and healthy children. In order to elucidate its etiology and effectively prevent its occurrence, we collected the peripheral blood samples of 50 children with congenital anorectal malformation and 50 healthy children with congenital anorectal malformation in Shanxi Children's Hospital. The genomic DNA was extracted by DNA extraction kit. All exons of SHH gene in children with congenital anorectal malformation and healthy children were amplified and sequenced by PCR and gene sequencing. Results: no mutation sequence of SHH gene was found in healthy group. Three SHH gene mutation sites were found in children with congenital anorectal malformation. One missense mutation in exon 1 and one missense mutation in exon 869 (GA3) in exon 1, respectively. Conclusion the mutation of the 1% SHH gene may be related to the occurrence of congenital anorectal malformation in Shanxi. It may be the susceptible factor of congenital anorectal malformation in Shanxi area. C869GA may be the hot spot of SHH gene mutation in children with congenital anorectal malformation in Shanxi area.
【学位授予单位】：山西医科大学
【学位级别】：硕士
【学位授予年份】：2017
【分类号】：R725.7

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