Z Wu1, L Yu, N Wang. 1. Department of Neurology, First Affiliated Hospital, Fujian Medical College, Fushou.
Abstract
OBJECTIVE: To study the clinical application value of genetic linkage analysis for hepatolenticular degenaration (Wilson's disease, WD) with four STR--D13S316, D13S133, D13S301, and D13S314. METHODS: Polymorphisms of the four short STR, of which one (D13S301) was located in WD gene and the other three (D13S316, D13S133 and D13S314) were at flanking sites of the gene, were amplified by polymerase chain reaction, and the alleles indentification was performed with denaturing polyacrylamide gel electrophoresis and used as genetic marker for haplotype analysis. RESULTS: Genetic linkage analysis indicated that among 56 individuals (35 siblings and 21 secondary-relatives) without any clinical symptoms, 26 were WD heterozygotes, 2 presymptomatic and 28 normal. Among three patient previously diagnosed as possible WD patients, one was identified as WD heterozygote and the other two WD patients definitely. CONCLUSION: This genetic diagnosis system based on the four STR polymorphisms is of high clinical application value for distinguishing individuals from WD families.
OBJECTIVE: To study the clinical application value of genetic linkage analysis for hepatolenticular degenaration (Wilson's disease, WD) with four STR--D13S316, D13S133, D13S301, and D13S314. METHODS: Polymorphisms of the four short STR, of which one (D13S301) was located in WD gene and the other three (D13S316, D13S133 and D13S314) were at flanking sites of the gene, were amplified by polymerase chain reaction, and the alleles indentification was performed with denaturing polyacrylamide gel electrophoresis and used as genetic marker for haplotype analysis. RESULTS: Genetic linkage analysis indicated that among 56 individuals (35 siblings and 21 secondary-relatives) without any clinical symptoms, 26 were WD heterozygotes, 2 presymptomatic and 28 normal. Among three patient previously diagnosed as possible WDpatients, one was identified as WD heterozygote and the other two WDpatients definitely. CONCLUSION: This genetic diagnosis system based on the four STR polymorphisms is of high clinical application value for distinguishing individuals from WD families.