کد مقاله | کد نشریه | سال انتشار | مقاله انگلیسی | نسخه تمام متن |
---|---|---|---|---|
10834770 | 1065934 | 2005 | 7 صفحه PDF | دانلود رایگان |
عنوان انگلیسی مقاله ISI
Mutations c.459Â +Â 1GÂ >Â A and p.P426L in the ARSA gene: Prevalence in metachromatic leukodystrophy patients from European countries
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کلمات کلیدی
موضوعات مرتبط
علوم زیستی و بیوفناوری
بیوشیمی، ژنتیک و زیست شناسی مولکولی
زیست شیمی
پیش نمایش صفحه اول مقاله
چکیده انگلیسی
In this multicentre study, we examined the prevalence of two mutations in the arylsulfatase A (ARSA) gene, i.e., c.459Â +Â 1GÂ >Â A and p.P426L, in 384 unrelated European patients presenting with different types of metachromatic leukodystrophy (MLD). In total, c.459Â +Â 1GÂ >Â A was found 194 times among the 768 investigated ARSA alleles (25%), whereas p.P426L was identified 143 times (18.6%). Thus, these two mutations accounted for 43.8% of investigated MLD alleles. Mutation c.459Â +Â 1GÂ >Â A was most frequent in late-infantile MLD patients (40%), while p.P426L was most frequent in adults (42.5%), which is consistent with earlier observations, although p.P426L was also found in a few late-infantile patients (0.9%), and c.459Â +Â 1GÂ >Â A was present in some adults (9%). Mutation c.459Â +Â 1GÂ >Â A is more frequent in countries situated at the western edges of Europe, i.e., in Great Britain and Portugal, and also in Belgium, Switzerland, and Italy, which is visible as a strand ranging from North to South, and additionally in Czech and Slovak Republics. Mutation p.P426L is most prevalent in countries assembled in a cluster containing the Netherlands, Germany, and Austria. In other Central European countries, the frequency of both c.459Â +Â 1GÂ >Â A and p.P426L ranges from 8 to 37.5%. Our study has confirmed that c.459Â +Â 1GÂ >Â A and p.P426L are the most frequently found MLD-causing mutations in Europe. The data about their prevalence reflect the population variability in Europe.
ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Molecular Genetics and Metabolism - Volume 86, Issue 3, November 2005, Pages 353-359
Journal: Molecular Genetics and Metabolism - Volume 86, Issue 3, November 2005, Pages 353-359
نویسندگان
Agnieszka Lugowska, Olga Amaral, Johannes Berger, Linda Berna, Nils U. Bosshard, Amparo Chabas, Anthony Fensom, Volkmar Gieselmann, Natalia G. Gorovenko, Willy Lissens, Jan-Eric Mansson, Ana Marcao, Helen Michelakakis, Hanno Bernheimer,