[Gene diagnosis for hepatolenticular degeneration by genetic linkage analysis with four short tandem repeat polymorphisms].
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.


CONCLUSIONS
This genetic diagnosis system based on the four STR polymorphisms is of high clinical application value for distinguishing individuals from WD families.
Wu
Z
Z
Department of Neurology, First Affiliated Hospital, Fujian Medical College, Fushou.
Yu
L
L
Wang
N
N
D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D005260:Female; D008040:Genetic Linkage; D006527:Hepatolenticular Degeneration / Q000175:diagnosis* / Q000235:genetics; D006579:Heterozygote; D006801:Humans; D008297:Male; D010375:Pedigree; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length; D012091:Repetitive Sequences, Nucleic Acid