肝豆状核变性的产前诊断:附3例家系报告

Prenatal and pre-symptomatic diagnosis of Wilson disease

目的筛查和确定肝豆状核变性(Wilson disease,WD)家系成员中的致病基因携带者与正常者,为进一步行产前诊断或产前遗传学诊断提供信息。方法采用外周血及羊水细胞基因组DNA抽提、PCR-RFLP、测序、微卫星等方法对WD患者进行ATP7B基因最常见突变点检测和3例产前诊断。结果22个多子女WD家系,共生育子女47名,其中有28例患者,9例因患或高度疑似WD已故,10例表型正常。3个家系产前诊断2例杂合型,1例正常(另外1例孕5月待产)。结论对有先证者的肝豆状核变性的家系进行普查有助于降低发病率。产前诊断有助于WD患者以及携带者的优生优育。

Objectives To screen and detect the female carriers from Wilson disease （WD） family members for prenatal or pre-symptomatie genetic diagnosis. Methods Twenty-two （22） WD families and their 48 members were examined with PCR-RFLP and mierosatellite. DNA was extracted from 3 pregnant women who had given birth to children with WD by amniocentesis under uhrasonic monitoring to perform prenatal diagnosis. Results Homozygotie type were found in 28 offsprings from a total of 47 in 22 WD families. Of them, 9 was deceased due to onset or suspected onset of WD, another 10 were without any clinical presentation. Prenatal diagnosis were performed in 3 families by STR analysis and RFLP, Which confirmed to be 2 hetrozygotic type （another one is 5 moths pregnant） . Conclusions Pre-symptomatie and prenatal diagnosis for WD patients and can iers in WD patient＇s families is essential.