一个眼齿指发育不良家系的基因变异分析
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics（2019）
Abstract
目的 分析一个眼齿指发育不良家系的致病基因.方法 先证者经骨骼发育异常基因包检测出致病变异基因GJA1,后采集家系成员外周血或羊水,提取全基因组DNA,扩增GJA1基因第2外显子,产物进行测序.结果 家系中两位成员存在GJA1基因c.221 A＞C错义变异,该变异导致编码的第74位氨基酸由组氨酸变成脯氨酸(p.H74P).结论 GJA1 c.221A＞C变异导致该家系成员表现为眼齿指发育不良综合征.
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Key words
Oculodentodigital dysplasia,GJA1 gene,Missense variation
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