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目的:对Ⅳ型成骨发育不全(OI)的一个家系进行临床调查分析和基因检测,探讨家族性成骨发育不全基因型与表型的关系。方法:根据临床特征对该家族成员进行初步分型,再采用高通量测序(high-throughput sequencing)的方法快速、准确地检测候选基因的变化。结果:Ⅲ5胎儿及家族内其他成员均存在COL1A2基因编码区多态性c.2746G〉A(p.Giy916Arg)和COL1A1基因编码区错义,同义突变。结论:明确家族性OI基因型与表型的关系将为OI患者及其家庭提供快速、准确地遗传咨询和优生建议。
Objective: To investigate the clinical investigation and gene detection of a pedigree of type Ⅳ aogenetic dysplasia (OI) and to explore the relationship between phenotypes and genotypes of familial aogenetic dysplasia. Methods: According to the clinical characteristics of the family members of the initial classification, and then using high-throughput sequencing (high-throughput sequencing) method to quickly and accurately detect candidate gene changes. Results: The missense and synonymous mutations of coding region of COL1A2 gene c.2746G> A (p.Giy916Arg) and COL1A1 gene coding region existed in the fetus and other members of Ⅲ Ⅲ family. Conclusion: A clear relationship between familial OI genotype and phenotype will provide OI patients and their families with prompt and accurate genetic counseling and eugenic recommendations.