[Molecular analysis of Wilson disease].
BACKGROUND
Wilson disease is an autosomal recessive disorder, characterized by cooper accumulation and intoxication of the organism. Molecular basis of the disease represent mutations in the gene for the copper-transporting ATPase (ATP7B).


RESULTS
The submitted paper deals with results of molecular-genetic examination in 130 unrelated families in which Wilson disease was diagnosed. By denaturing gradient gel electrophoresis (DGGE), the exons with abnormal sequences were detected. Followed by sequencing, 17 causal mutations and 9 silent polymorphism were found. Five novel mutations were detected. After analysis of 260 mutant alleles, 214 (82.3%) were identified. The most frequent mutation, H1069Q, occurred in our population with the frequency of 65.8%. Incidence of other mutations, however, did not exceed 5%.


CONCLUSIONS
DNA analysis of the Wilson disease offers prompt and reliable results in affected families. It can help to identify asymptomatic and heterozygote siblings at genetic counselling.
Vrábelová
S
S
Výzkumný ústav zdraví dítĕte, oddĕlení biochemické a molekulární genetiky, Brno.
Vánová
P
P
Kopecková
L
L
Trunecka
P
P
Smolka
V
V
Procházková
D
D
Vejvalková
S
S
Suláková
A
A
Kupcová
V
V
Bzdúch
V
V
Kozák
L
L
D000251:Adenosine Triphosphatases / Q000235:genetics; D000293:Adolescent; D000328:Adult; D027682:Cation Transport Proteins / Q000235:genetics; D002648:Child; D002675:Child, Preschool; D003300:Copper; D000073840:Copper-Transporting ATPases; D005260:Female; D005787:Gene Frequency; D006527:Hepatolenticular Degeneration / Q000235:genetics*; D006801:Humans; D008297:Male; D017354:Point Mutation; D011110:Polymorphism, Genetic; D020539:Sequence Analysis, Protein
D027682:Cation Transport Proteins; D003300:Copper; D000251:Adenosine Triphosphatases; C000612464:ATP7B protein, human; D000073840:Copper-Transporting ATPases