CAJ | 학술논문

目的对重庆地区一个常染色体显性遗传的遗传性少毛症家系进行基因诊断,并探讨其临床特点.方法对先证者进行病史和家族史询问以及详细的临床检查.提取所有家系成员的基因组DNA,扩增HR基因及其上游开放阅读框基因的所有编码序列直接进行序列测定,与数据库中的参考序列进行比对分析.结果包括先证者在内的所有患者自幼头发眉毛稀少,随年龄增长头发生长缓慢、易断,自青春期开始出现头发脱落.查体见弥漫性头发稀疏,发干粗糙质硬,呈现不规则扭曲样外观,睫毛、腋毛以及阴毛稀少.对先证者U2 HR基因测序发现编码区第103位碱基由T变为C(c.103T＞C),导致第35位终止密码子TAG丢失而编码谷氨酰胺(p.X35Q),家系内的正常成员以及家系外同地区的50名健康对照均未发现该突变位点.结论该家系的临床表现和遗传方式符合1型MUHH的诊断,基因诊断发现的U2HR突变位点103T＞C为中国汉族遗传性少毛症患者人群中首次报道.
목적 대중경지구일개상염색체현성유전적유전성소모증가계진행기인진단,병탐토기림상특점.방법 대선증자진행병사화가족사순문이급상세적림상검사.제취소유가계성원적기인조DNA,확증HR기인급기상유개방열독광기인적소유편마서렬직접진행서렬측정,여수거고중적삼고서렬진행비대분석.결과 포괄선증자재내적소유환자자유두발미모희소,수년령증장두발생장완만、역단,자청춘기개시출현두발탈락.사체견미만성두발희소,발간조조질경,정현불규칙뉴곡양외관,첩모、액모이급음모희소.대선증자U2 HR기인측서발현편마구제103위감기유T변위C(c.103T＞C),도치제35위종지밀마자TAG주실이편마곡안선알(p.X35Q),가계내적정상성원이급가계외동지구적50명건강대조균미발현해돌변위점.결론 해가계적림상표현화유전방식부합1형MUHH적진단,기인진단발현적U2HR돌변위점103T＞C위중국한족유전성소모증환자인군중수차보도.
Objective To do genetic and clinical analysis in an autosomal dominant hereditary hypotrichosis family.Methods Family investigation,pedigree analysis and clinical examination were performed.Collected the clinical data and extracted the genomic DNA from the blood samples of the family members.The genetic analysis was carried out in the code region of HR gene and U2HR gene by direct DNA sequencing.Result There were 9 patients with hypotrichosis in the family,which were characterized by sparse hair and eyebrow at first.Gradually,the hair became more and more sparse and fragile.Genetic diagnosis demonstrated a novel mutation,c.103T ＞ C (X35Q) in U2HR in the affected family members,which not found in the healthy controls.The mutation abolish the stop code TAG and code glutamine (Gln,Q).Conclusion The clinical and genetic findings accord with the diagnosis of type 1Marie Unna hereditary hypotrichosis in this family.Mutation c.103T ＞ C of U2HR gene is novel in Chinese patients.