DNA-BASED PRESYMPTOMATIC DIAGNOSIS OF WILSON DISEASE

被引：8

作者：

GAFFNEY, D

WALKER, JL

ODONNELL, JG

FELL, GS

ONEILL, KF

PARK, RHR

RUSSELL, RI

机构：

[1] GLASGOW ROYAL INFIRM,GASTROENTEROL UNIT,GLASGOW G4 0SF,SCOTLAND

[2] MIDLOCK MED CTR,GLASGOW G51 1SL,SCOTLAND

来源：

JOURNAL OF INHERITED METABOLIC DISEASE | 1992年 / 15卷 / 02期

关键词：

D O I：

10.1007/BF01799625

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

Investigation using DNA markers in a family with Wilson disease revealed that an apparently normal child of 10 years of age with non-diagnostic copper biochemistry had the disease. The procedure used linked restriction fragment length polymorphic markers. Demonstration of increased liver copper concentration from a liver biopsy confirmed the diagnosis and the child was started on chelation therapy. Two other asymptomatic siblings were shown, using the same techniques, not to have the disease. Similar analysis was carried out on another family with just one index case.

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页码：161 / 170

页数：10

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