CAJ | 학술논문

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.
목적대일의사성골불전IV형혹기타류형적환인실시기인진단,이게시환인발병급빈번골절적내재원인,위금후실시대증치료화산전기인진단창조필요적전제조건.방법대경증상、체정관찰화X선검사초진위성골불전IV형혹기타류형적환인,재추취외주혈제비DNA모판후,채용PCR、DNA직접측서법,대환인적COL1A1기인진행돌변검측,연후대소발현적돌변진행분석화감정.결과재COL1A1기인적편마구내발현일전형적착의돌변(c.823G>C1/p.G275R),경사HGMD수거고증실위성골불전IV형적치병성돌변.결론선증자위일한견적성골불전IV형환인,소발현적p.G275R돌변위중국인군수차보도적병이성돌변.
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 of p.G275R is a pathological mutation first reported in China.