外胚叶发育不全一家系的基因型分析

发布时间：2018-01-25 06:45

本文关键词： 外胚叶发育不全家系调查表型基因型遗传特征　出处：《口腔医学研究》2017年07期 　论文类型：期刊论文

【摘要】：目的:分析外胚叶发育不全家系的表型特点和遗传特征,并对家系基因型进行分析。方法:收集1个外胚叶发育不全家系,采用临床检查和家系调查的方法,调查并记录先证者及家系成员的病史和体格检查资料。对家系成员EDAR基因开放阅读框内外显子编码区及外显子-内含子接头区核苷酸序列进行分析。结果:收集到的家系为常染色体显性遗传,患者临床表现典型,家系内表现度差异小。家系成员EDAR基因开放阅读框内未检测到基因突变。结论:本研究收集的外胚叶发育不全家系临床症状明显,致病基因排除EDAR基因。
[Abstract]:Objective: to analyze the phenotypic and genetic characteristics of the families with ectodermal dysplasia and to analyze the genotypes of the families. Methods: one family with ectodermal dysplasia was collected and the methods of clinical examination and family investigation were used. The history and physical examination of proband and family members were investigated and recorded. The nucleotide sequences of exon coding region and exon-intron junction region in EDAR gene open reading frame of family members were analyzed. :. The families collected were autosomal dominant inheritance. There was no gene mutation in the open reading frame of EDAR gene in the family members. Conclusion: the clinical symptoms of the families with ectodermal dysplasia were obvious. The pathogenic gene excluded EDAR gene.
【作者单位】：武汉大学口腔医学院湖北省口腔基础医学重点实验室-省部共建国家重点实验室培育基地;大连医科大学口腔医学院口腔内科学教研室;
【基金】：国家自然科学基金(编号:81501750) 湖北省口腔基础医学重点实验室-省部共建国家重点实验室培育基地开放研究基金(编号:201502) 辽宁省教育厅科学研究一般项目(编号:L2015154;L2016027)
【分类号】：R781.2
【正文快照】： 先天缺牙是人类最常见的发育异常之一,如果将第三磨牙的先天缺失包括在内,先天缺牙的发病率可高达10%。参与牙齿发育的基因的突变等遗传因素和许多环境因素均可导致牙齿先天缺失[1]。根据遗传方式的不同,先天缺牙可以分为常染色体显性遗传型、常染色体隐性遗传型及X连锁遗传型

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