摘要
肝豆状核变性病(Wilsondisease,WD)是由于P型ATP7B酶缺陷引起的常染色体隐性遗传性疾病 ,分子生物学方法有助于鉴别WD患者家系中症状前患者和杂合子。此研究对62例WD患者及家属进行了微卫星D13S301位点分析和血清铜氧化酶活性测定。结果显示 :62例患者中 ,10例(16 %)和患者父母(92名)中41例(45 %)的血清铜氧化酶活性在(0.1~0.3)OD之间。经D13S301位点分析 ,在有同胞的17个WD家系中 ,3例同胞为WD患者(带型与先症者相同) ,6例为杂合子(带型来自父母一方) ,7例为正常人 ,1例未检测。
As the Wilson disease(WD)is an autosomal recessive disorder caused by the deficiency of the P-type ATPase(ATP7B).So molecular biological assay is helpful for differential diagnosis of pre-symptomatic WD patients and carriers.To explore the role of microsatellite D13S301 locus assay in the differential diagnosis of the patients'family members,62 WD patients and their families were examined with microsatellite D13S301 locus analysis and also serum copper oxidase activity was measured.It showed that the activity of serum copper oxidase were (0.1-0.3)OD in 10 of 62 patients(16%)and 41 of 92 parents(45%).Of 17 siblings in WD families,WD was confirmed in 3 with the microsatellite D13S301 analysis and copper oxidase activity,heterogeneity in 6 cases,normal in 7 cases.In order to make different-ial diagnosis of pre-symptonatic WD patients and carriers in WD patient's families,the microsatellite D13S301 locus analysis should be performed.
出处
《临床儿科杂志》
CAS
CSCD
北大核心
2002年第10期614-616,共3页
Journal of Clinical Pediatrics