 |
|
Identification of a High Frequency of Mutation at Exon 8 of the ATP7B Gene in a Chinese Population With Wilson Disease by Fluorescent PCR
Pingyi Xu, MD, PhD;
Xiuling Liang, MD;
Joseph Jankovic, MD;
Wei-dong Le, MD, PhD
Arch Neurol. 2001;58:1879-1882.
Background Wilson disease (WD) is an autosomal recessive
disorder of copper transport. Mutation analysis has led to the
discovery of more than 100 mutations at ATP7B, and most of
them are population specific.
Objectives To verify the high frequency of mutation at exon 8
of ATP7B in Chinese patients with WD and to establish a DNA
diagnostic method for WD.
Setting University medical centers.
Patients and Methods Screening for mutations at exon 8 of
ATP7B by fluorescent polymerase chain reaction analysis and
restriction analysis was conducted in 106 unrelated Chinese patients
with WD and in 55 individuals from 10 Chinese families with WD.
Results Five homozygotes and 32 heterozygotes were identified.
Sequence analysis showed a missense mutation (2273G T) and a nonsense
mutation (2250CG) together at exon 8. The rate of gene
mutation in 106 patients was 35% (5% homozygous and 30%
heterozygous). Samples of DNA from 55 individuals from 10
Chinese families with WD were examined by fluorescent polymerase chain
reaction. We found that 13 siblings were carriers (24%).
Conclusions A high frequency of mutation at exon 8
of the ATP7B gene exists in the Chinese population,
and fluorescent polymerase chain reaction analysis may be an effective
and accurate assay in detection of the WD gene.
From the Department of Neurology, Baylor College
of Medicine, Houston, Tex.
Corresponding author: Wei-dong Le, MD, PhD, Room NB205, Department of
Neurology, Baylor College of Medicine, 6501 Fannin St, Houston, TX
77030 (e-mail: Weidongl{at}bcm.tmc.edu).
RELATED ARTICLE
Archives of Neurology Reader's Choice: Continuing Medical Education
Arch Neurol. 2001;58(11):1942-1944.
FULL TEXT
|
