Gj. Leechen et al., HUMAN ALPHA-L-IDURONIDASE (IDUA) GENE - APPARENT RECOMBINATION IN INTRON-2 BY HAPLOTYPE ANALYSIS IN A TAIWANESE POPULATION, Journal of the Formosan Medical Association, 97(7), 1998, pp. 465-470
The polymorphic DNA haplotype of the alpha-L-iduronidase (IDUA) gene i
n a Taiwanese population was investigated. Genomic DNA extracted from
85 volunteers was used to amplify fragments containing the polymorphic
sites A8, A20 and Q33H from exon 1 and a variable number of tandem re
peats (VNTR) region in intron 2. Additionally, sites R105Q and L118 in
exon 3, A314 from exon 7, A361T and T388 from exon 8, T410 and V454I
from exon 9, and R489 from exon 10 were amplified. The polymerase chai
n reaction-amplified products were analyzed by restriction fragment le
ngth polymorphism (RFLP) analysis, allele specific oligonucleotide (AS
O) hybridization, or gel electrophoresis. Of the examined polymorphism
s, the intron 2 VNTR was not in Hardy-Weinberg equilibrium. Conversely
, all 11 single base change polymorphisms were in Hardy-Weinberg equil
ibrium. Linkage disequilibrium analysis of the haplotype data revealed
strong nonrandom association bet tween A8 and A20 in exon 1 as well a
s among R105Q. A314, A361T, T388, T410, V454I, and R489 in exons 3 to
10. In contrast, little linkage disequilibrium between two clusters of
linked polymorphisms on either side of the VNTR was observed. The res
ults suggest apparent recombination in intron 2 of the IDUA gene, with
little or no recombination in exon 1 or exons 3 to 10.