@entity2360 ( @entity2360 ), an @entity74 of @entity920 transport, is the most common @entity74 in Hong Kong Chinese. This was the first local study to elucidate the molecular basis and establish an effective DNA-based diagnostic protocol. The @entity37824 genes of 65 @entity1 were amplified by polymerase chain reaction (PCR) and sequenced. Haplotype analysis was performed using D13S301, D13S314, and D13S316. The @entity70522 / @entity21142 status in 660 subjects was determined to estimate @entity2360 prevalence. Allele age of @entity21142 was determined by the smallest homozygosity region between D13S301 and D13S270. We identified 42 different mutations with 17 being novel. @entity21142 (17.3%) was the most prevalent. Exons 2, 8, 12, 13, and 16 harbored 70% mutations. Thirty-two haplotypes were associated with @entity2360 chromosomes. The estimated prevalence rate was 1 in 5,400. Three out of 660 normal subjects had @entity70522 / @entity21142 . In the remaining 657 individuals, neither @entity70522 nor @entity21142 was found. We characterized a Hong Kong Chinese-specific @entity37824 mutation spectrum with great genetic diversity. Exons 2, 8, 12, 13, and 16 should be screened first. The perfect linkage disequilibrium suggested that @entity21142 and its private polymorphism @entity70522 originated from a single ancestor. This East-Asian-specific mutation @entity21142 / @entity70522 is aged at least 5,500 years.

Mutational analysis of 65 XXXX @entity1 in Hong Kong Chinese: identification of 17 novel mutations and its genetic heterogeneity.

@entity37824 :: ('540', 'Gene') :: ['ATP7B'] @entity1 :: ('9606', 'Species') :: ['patients'] @entity21142 :: ('p|SUB|R|778|L', 'ProteinMutation') :: ['p.R778L'] @entity70522 :: ('p|SUB|L|770|L', 'ProteinMutation') :: ['p.L770L'] @entity920 :: ('MESH:D003300', 'Chemical') :: ['copper'] @entity2360 :: ('MESH:D006527', 'Disease') :: ['Wilson disease', 'WD'] @entity74 :: ('MESH:D030342', 'Disease') :: ['inherited liver disorder', 'autosomal recessive disorder']
@entity2360 :: (MESH:D006527,Disease) :: ['Wilson disease']
