Lee-Chen G J, Wang T R, Hwu W L, Day K R, Wang C K
Department of Biology, National Taiwan Normal University, Taipei, Taiwan.
J Formos Med Assoc. 1998 Jul;97(7):465-70.
The polymorphic DNA haplotype of the alpha-L-iduronidase (IDUA) gene in 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 repeats (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 chain reaction-amplified products were analyzed by restriction fragment length polymorphism (RFLP) analysis, allele specific oligonucleotide (ASO) hybridization, or gel electrophoresis. Of the examined polymorphisms, the intron 2 VNTR was not in Hardy-Weinberg equilibrium. Conversely, all 11 single base change polymorphisms were in Handy-Weinberg equilibrium. Linkage disequilibrium analysis of the haplotype data revealed strong nonrandom association between A8 and A20 in exon 1 as well as 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 results suggest apparent recombination in intron 2 of the IDUA gene, with little or no recombination in exon 1 or exons 3 to 10.
对台湾人群中α-L-艾杜糖醛酸酶（IDUA）基因的多态性DNA单倍型进行了研究。从85名志愿者中提取的基因组DNA用于扩增包含外显子1中多态性位点A8、A20和Q33H以及内含子2中可变数量串联重复序列（VNTR）区域的片段。此外，还扩增了外显子3中的R105Q和L118位点、外显子7中的A314、外显子8中的A361T和T388、外显子9中的T410和V454I以及外显子10中的R489。聚合酶链反应扩增产物通过限制性片段长度多态性（RFLP）分析、等位基因特异性寡核苷酸（ASO）杂交或凝胶电泳进行分析。在所检测的多态性中，内含子2 VNTR不符合哈迪-温伯格平衡。相反，所有11个单碱基变化多态性均符合哈迪-温伯格平衡。对单倍型数据的连锁不平衡分析显示，外显子1中的A8和A20之间以及外显子3至10中的R105Q、A314、A361T、T388、T410、V454I和R489之间存在强烈的非随机关联。相比之下，在VNTR两侧的两个连锁多态性簇之间观察到的连锁不平衡很少。结果表明，IDUA基因内含子2存在明显的重组，而外显子1或外显子3至10中很少或没有重组。
