Esterase D and retinoblastoma gene loci are tightly linked to Wilson's disease in Chinese pedigrees from Taiwan.
Wilson's disease (WD) is a rare autosomal recessive disorder and has been mapped to the long arm of chromosome 13 (q14.1). We have analyzed the segregation of esterase D (ESD) and retinoblastoma (RB) gene loci in ten families of Chinese WD subjects living in Taiwan. The polymorphic information content (PIC) for ESD and RB was 0.18 and 0.31, respectively. We confirmed a tight linkage between these loci and WD with a lod score of 3.33 by multipoint linkage analysis. The data from this limited number of pedigrees also suggested the following order: centromere-WD-RB-ESD or centromere-ESD-RB-WD. ESD in conjunction with RB polymorphism would be useful in prenatal and presymptomatic diagnosis, as well as in carrier detection in informative pedigrees.
Chuang
L M
LM
Department of Internal Medicine, College of Medicine, National Taiwan University, Taipei.
Tai
T Y
TY
Wang
T R
TR
Chang
Y C
YC
Chen
K H
KH
Lin
R S
RS
Lin
B J
BJ
D000483:Alleles; D043182:Carboxylesterase; D002265:Carboxylic Ester Hydrolases / Q000235:genetics*; D002681:China / Q000208:ethnology; D002874:Chromosome Mapping; D002882:Chromosomes, Human, Pair 13; D004247:DNA / Q000235:genetics; D005260:Female; D016161:Genes, Retinoblastoma; D008040:Genetic Linkage; D005838:Genotype; D006527:Hepatolenticular Degeneration / Q000235:genetics*; D006801:Humans; D008126:Lod Score; D008297:Male; D010375:Pedigree; D012150:Polymorphism, Restriction Fragment Length; D013624:Taiwan
D004247:DNA; D002265:Carboxylic Ester Hydrolases; D043182:Carboxylesterase; C020118:ESD protein, human