现代妇产科进展2017，Vol.26Issue(10)：763-766,4.DOI:10.13283/j.cnki.xdfckjz.2017.10.007
两个BDB1家系基因突变分析和产前诊断
Mutation analysis of two BDB1 pedigrees and prenatal diagnosis
王陈 1杨娜 2彭建红 1冯春 2张元珍 1曹云霞 2郑芳1
作者信息
- 1. 武汉大学中南医院 湖北省产前诊断与优生临床医学研究中心,武汉 430071
- 2. 武汉大学中南医院 临床基因诊断中心,武汉 430071
- 折叠
摘要
Abstract
Objective:To screen the mutation of related genes in patients with Brachy-dactyly type B1 ( BDB1 ) from two pedigrees and perform prenatal diagnosis for two affected pregnancies. Methods:DNA samples were extracted from peripheral blood of two pedigrees. Mutations were screened on the 8 and 9 exons of ROR2 using PCR direct sequencing. Cell-free fetal DNA was extracted from plasma of two pregnancies for noninvasive prenatal screening and genomic DNA was isolated from amniotic fluid cells for prenatal diagnosis. Ultrasound examina-tion was carried out to observe the fetus ' phenotype. Results:Here we identified an identical nonsense mutation (c. 2273C>A,p. S758X) of ROR2 in affected patients of two families. Sub-sequently,noninvasive prenatal screening on two affected pregnant women using cell-free fetal DNA was performed and the results suggested that one fetus from pedigree 2 carried the muta-tion and the other from pedigree 1 did not. It was proved by prenatal diagnosis using amniotic fluid cells test and ultrasound examination. Conclusion:Our finding further confirmed that the heterozygous mutation c. 2273C>A was the causative defect in two BDB1 pedigrees. In addi-tion,combining more than one index for prenatal diagnosis is recommended.关键词
B1型短指症/ROR2基因杂合截短突变/无创产前筛查/产前诊断Key words
BDB1/ROR2 heterozygous truncating mutation/Noninvasive prenatal screening/Prenatal diagnosis分类
医药卫生引用本文复制引用
王陈,杨娜,彭建红,冯春,张元珍,曹云霞,郑芳..两个BDB1家系基因突变分析和产前诊断[J].现代妇产科进展,2017,26(10):763-766,4.
