[Detection of presymptomatic patients and heterozygotes with Wilson's disease by using haplotypes of microsatellites].
OBJECTIVE
To develop a rapid, exact and effective technique of gene diagnosis for the early diagnosis of patients with wilson's disease(WD) and detection of WD heterozygotes.


METHODS
Five microsatellite (or short tandem repeat, STR) loci at D13S301, D13S316, D13S296, AFM238vc3 and AFM184xc5 were amplified by polymerase chain reaction(PCR). D13S301 was a locus within WD gene, the others were in the flank of WD gene. After detection of amplified fragment length polymorphism of the five STR loci with denaturing polyacrylamide gel electrophoresis(AFLP-PAGE), the STR haplotypes analyses were performed on 120 members in 23 WD families.


RESULTS
The five STR loci had high polymorphism information content(PIC). PICs of D13S301, D13S316, D13S296, AFM084xc5 and AFM238vc3 were 0.89, 0.93, 0.91, 0.91 and 0.94 respectively. The STR haplotypes analyses confirmed that the two patients previously diagnosed doubtfully were WD patients definitely. Among 31 sibs without any clinical symptoms, 4 were diagnosed as presymptomatic patients, 8 as WD heterozygotes, 17 as normal homozygotes and 2 as doubtful presymptomatic patients.


CONCLUSIONS
Haplotypes analysis of the five STR loci can provide high genetic information. It provides a new important technique in gene diagnosis of WD.
Department of Neurology, Guangdong Provincial People's Hospital, Guangzhou, Guangdong, 510080 P. R. China. llllll@pubic.guangzhou.gd.cn
L
L
Wang
X
X
Liang
Z
Z
Liu
F
F
Shen
W
W
Mong
P
P
Xu
X
X
Pan
B
B
Chen
D000328:Adult; D005260:Female; D006580:Genetic Carrier Screening / Q000379:methods*; D006527:Hepatolenticular Degeneration / Q000175:diagnosis* / Q000235:genetics; D006801:Humans; D008297:Male; D018895:Microsatellite Repeats