DNA MARKERS FOR THE DIAGNOSIS OF WILSON DISEASE

被引:22
作者
HOUWEN, RHJ
ROBERTS, EA
THOMAS, GR
COX, DW
机构
[1] HOSP SICK CHILDREN,RES INST,555 UNIV AVE,TORONTO M5G 1X8,ONTARIO,CANADA
[2] UNIV TORONTO,DEPT PEDIAT,TORONTO M5S 1A1,ONTARIO,CANADA
[3] UNIV TORONTO,DEPT MOLEC & MED GENET,TORONTO M5S 1A1,ONTARIO,CANADA
[4] UNIV TORONTO,DEPT MED,TORONTO M5S 1A1,ONTARIO,CANADA
关键词
WILSON DISEASE; COPPER; RESTRICTION FRAGMENT LENGTH POLYMORPHISMS; DNA DIAGNOSIS;
D O I
10.1016/S0168-8278(05)80204-1
中图分类号
R57 [消化系及腹部疾病];
学科分类号
摘要
Wilson disease is an autosomal recessive disorder of copper transport for which the basic defect is unknown diagnosis of Wilson disease is usually made by measuring serum ceruloplasmin concentration, urinary copper excretion, and liver copper concentration. However, discrimination between heterozygotes and patients is sometimes difficult. The gene for Wilson disease has been assigned to chromosome-13 at q14-q21. In this study, 10 markers from the 13q14-13q21 region were investigated in 12 families with a well-established diagnosis, to confirm reported linkage results. Markers from the same region were tested in two additional families, in which a sib of each index case had unclear results with conventional biochemical assays. The linkage results in this study are similar to those of Middle Eastern families, and support the hypothesis of a single disease locus. In the two families studied for diagnostic purposes, the status of 2 presymptomatic sibs was established as affected and 1 as unaffected. This study therefore shows that DNA markers can be used to discriminate between presymptomatic patients and non-affected individuals when biochemical results are equivocal, as long as an index case with Wilson disease of known status is available and markers are informative.
引用
收藏
页码:269 / 276
页数:8
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