Bunge S, Kleijer W J, Steglich C, Beck M, Zuther C, Morris C P, Schwinger E, Hopwood J J, Scott H S, Gal A
Institut für Humangenetik, Medizinische Universität, Lübeck, Germany.
Hum Mol Genet. 1994 Jun;3(6):861-6. doi: 10.1093/hmg/3.6.861.
A group of 46 European patients with mucopolysaccharidosis type I (MPS I) was screened for mutations of the alpha-L-iduronidase gene. The 2 common nonsense mutations, W402X and Q70X, were identified in, respectively, 37% and 35% of mutant alleles. Considerable differences were seen in the frequency of these 2 mutations in patients from North Europe (Norway and Finland) and other European countries (mainly The Netherlands and Germany). In Scandinavia, W402X and Q70X account for 17% and 62% of the MPS I alleles, respectively, while in other European countries W402X is about 2.5 times more frequent (48%) than Q70X (19%). Eight novel mutations are described including 4 missense mutations, 1 nonsense mutation, 1 insertion of 2 base pairs, and 2 deletions of 1 and 12 base pairs.
对一组46例欧洲I型粘多糖贮积症（MPS I）患者进行了α-L-艾杜糖醛酸酶基因突变筛查。在37%和35%的突变等位基因中分别鉴定出两种常见的无义突变，即W402X和Q70X。北欧（挪威和芬兰）患者与其他欧洲国家（主要是荷兰和德国）患者中这两种突变的频率存在显著差异。在斯堪的纳维亚半岛，W402X和Q70X分别占MPS I等位基因的17%和62%，而在其他欧洲国家，W402X的频率（48%）约是Q70X（19%）的2.5倍。本文描述了8种新突变，包括4种错义突变、1种无义突变、1种2个碱基对的插入以及2种1个和12个碱基对的缺失。
