Scott H S, Nelson P V, Cooper A, Wraith J E, Hopwood J J, Morris C P
Department of Chemical Pathology, Adelaide Children's Hospital, North Adelaide, Australia.
Hum Genet. 1992 Mar;88(6):701-2. doi: 10.1007/BF02265303.
Two polymorphisms exist in the alpha-L-iduronidase (IDUA) gene, the gene that is defective in mucopolysaccharidosis type I (MPS I), viz. a KpnI polymorphism and a variable number of tandem repeats (VNTR) polymorphism with three common alleles. The analysis of allele and haplotype frequencies for these two polymorphisms in the normal population and in MPS I patients revealed the presence of linkage disequilibrium. The frequency of the 2,2 (VNTR, KpnI) allele in MPS I patients was 57% compared with only 37% in the normal population. The implications for the presence of a major MPS I allele and the ability to predict patient phenotype are discussed.
α-L-艾杜糖醛酸酶（IDUA）基因存在两种多态性，该基因在I型黏多糖贮积症（MPS I）中存在缺陷，即KpnI多态性和具有三个常见等位基因的可变串联重复序列（VNTR）多态性。对正常人群和MPS I患者中这两种多态性的等位基因和单倍型频率分析显示存在连锁不平衡。MPS I患者中2,2（VNTR，KpnI）等位基因的频率为57%，而正常人群中仅为37%。文中讨论了主要MPS I等位基因的存在及其预测患者表型能力的意义。
