[Mutation screening and prenatal diagnosis of Wilson's disease by denature high performance liquid chromatography].

变性高效液相色谱法 产前诊断 复合杂合度 先证者 突变 遗传学 胎儿 外显子 基因型 遗传咨询 医学 杂合子优势 疾病 怀孕 基因突变 生物 基因 内科学
作者
Juan Du,Bodi Gao,Lu-Yun Li,Wen Li,Guangxiu Lu
出处
期刊:Chinese journal of medical genetics 卷期号:25 (5): 527-30 被引量:1
标识
摘要

To study the clinical application of denature high performance liquid chromatography (DHPLC) technique on mutation screening and prenatal diagnosis for Wilson's disease (WD).Genomic DNA of the probands with Wilson's disease and their parents from 6 families was subjected to polymerase chain reaction (PCR) for the 21 exons and the 5' untranslated region of ATP7B gene. Mutation screening of the PCR products was performed by DHPLC. The abnormal peaks were confirmed by further sequencing analysis. Based on the successful gene diagnosis for the patients, prenatal diagnosis was performed in 4 families, including 1 twin and 3 singletons.Five disease-causing mutations and 8 polymorphisms were found in the 6 probands by DHPLC and sequencing. The parents were carriers with the same mutation as their affected children. Prenatal diagnosis showed that two pregnancies were abnormal, including a twin pregnancy with compound heterozygote for Arg778Leu and IVS4-1G>C mutation, and a single pregnancy with a compound heterozygote for Ser975Tyr and Pro992Leu mutations. These two pregnancies were terminated after genetic counseling. Another two pregnancies included a singleton carrier with Ser975Tyr mutation and a normal genotype fetus, respectively. These two pregnancies were continued and the babies were healthy.DHPLC is a powerful tool in prenatal diagnosis as well as in postnatal diagnosis.

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