一罕见成骨不全Ⅳ型的基因诊断  

Gene diagnosis of a rare case with osteogenesis imperfecta type Ⅳ

作　　者：郭奕斌[1] 艾阳[1] 蒋玮莹[1] 

机构地区：[1]中山大学中山医学院医学遗传学教研室,广东广州510080

出　　处：《分子诊断与治疗杂志》2013年第1期12-14,共3页Journal of Molecular Diagnostics and Therapy

基　　金：国家自然科学基金(No.30772069);闽粤横向课题基金(No.7101025)

摘　　要：目的对一疑似成骨不全Ⅳ型或其他类型的患儿实施基因诊断,以揭示患儿发病及频繁骨折的内在原因,为今后实施对症治疗和产前基因诊断创造必要的前提条件。方法对经症状、体征观察和X线检查初诊为成骨不全Ⅳ型或其他类型的患儿,在抽取外周血制备DNA模板后,采用PCR、DNA直接测序法,对患儿的COL1A1基因进行突变检测,然后对所发现的突变进行分析和鉴定。结果在COL1A1基因的编码区内发现一典型的错义突变(c.823G>C1/p.G275R),经查HGMD数据库证实为成骨不全Ⅳ型的致病性突变。结论先证者为一罕见的成骨不全Ⅳ型患儿,所发现的p.G275R突变为中国人群首次报道的病理性突变。Objective The gene diagnosis of a child with suspected OI-IV （Osteogenesis Imperfecta type IV） or other types of diseases was made to reveal the internal cause of morbidity and frequent bone fracture, which creates the indispensable precondition for the prenatal gene diagnosis and symptomatic treatment in the future. Methods According to the observation of symptoms, signs and X-ray testing, the child was diagnosed preliminarily with OI-IV or other types. Then extracting DNA from peripheral blood, PCR-DNA direct sequencing were applied to detect the COL1A1 gene, and the mutation was analyzed and identified. Results A classical missense mutation （c.823G〉C/p.G275R） was found in the coding region of COL1A1 gene, which was confirmed a known mutation leading to OI-IV by HGMD. Conclusion The proband is a rare patient child suffered with OI-IV. The mutation ofp.G275R is a pathological mutation first reported in China.

关 键 词：成骨不全IV型 COLlAl基因 基因诊断 

分 类 号：R726.8[医药卫生—儿科]