Clinical Application of Antenatal Genetic Diagnosis of Osteogenesis Imperfecta Type IV

被引：0
作者：
Yuan, Jing [1 ]
Li, Song [1 ]
Xu, YeYe [1 ]
Cong, Lin [1 ]
机构：
[1] Anhui Med Univ, Affiliated Hosp 1, Dept Obstet & Gynecol, Hefei, Anhui, Peoples R China
来源：
MEDICAL SCIENCE MONITOR | 2015年 / 21卷
关键词：
Genotyping Techniques; Osteogenesis Imperfecta; Prenatal Diagnosis; PROLYL; 3-HYDROXYLATION; PRENATAL-DIAGNOSIS; MUTATIONS; COL1A2; COLLAGEN; LETHAL;
D O I：
暂无
中图分类号：
R-3 [医学研究方法]; R3 [基础医学];
学科分类号：
1001 ;
摘要：
Background: Clinical analysis and genetic testing of a family with osteogenesis imperfecta type IV were conducted, aiming to discuss antenatal genetic diagnosis of osteogenesis imperfecta type IV. Material/Methods: Preliminary genotyping was performed based on clinical characteristics of the family members and then high-throughput sequencing was applied to rapidly and accurately detect the changes in candidate genes. Results: Genetic testing of the III5 fetus and other family members revealed missense mutation in c.2746G>A, pGly916Arg in COL1A2 gene coding region and missense and synonymous mutation in COL1A1 gene coding region. Conclusions: Application of antenatal genetic diagnosis provides fast and accurate genetic counseling and eugenics suggestions for patients with osteogenesis imperfecta type IV and their families.
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页码：964 / 969
页数：6
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