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A. Krumina J. Keiss V. Sondore A. Chernushenko G. Cernevska A. Zarina I. Micule L. Piekuse M. Kreile B. Lace Z. Krumina B. Rozentale 《Russian Journal of Genetics》2008,44(10):1195-1200
Wilson disease (WD) is an autosomal recessive disorder of copper metabolism characterized by hepatic and/or neurological damage.
More than 300 mutations in gene ATP7B causing this defect have been reported. The data on correlation between WD patient genotypes and clinical presentation are
controversial. In this paper, the results of ATP7B mutation analysis by testing for mutation H1069Q and direct sequencing of six exons together with the clinical data of 40
Latvian WD patients are presented. Two previously described and two novel mutations as well as one previously reported polymorphism
were identified. The H1069Q mutation was present at 52.5% of the disease alleles. One individual among 157 healthy Latvians
was also found to be a mutation H1069Q carrier. The estimated incidence of WD in Latvia is ∼1 in 25600. Wide clinical variability
was observed among individuals with the same ATP7B genotype, thus supporting the suggestion that modifying factors play an additional role in the pathogenesis of WD. An algorithm
for the diagnosis of WD, including testing for mutation H1069Q, is recommended for the populations where mutation H1069Q accounts
for 50% of WD alleles or more.
The text was submitted authors English. 相似文献
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