Identification of mutations in the arylsulfatase B gene in Russian patients with type VI mucopolysaccharidosis

摘要

Molecular genetic analysis of the gene for arylsulfatase B (ASB) was conducted in ten Russian patients with type VI mucopolysaccharidosis (MPS VI) of different severity. Eight exons from the translated region of the ASB gene of each patient were amplified and sequenced using the nonradioactive method. Fourteen mutant alleles were identified in the sample studies by means of DNA analysis; 13 of them had not been described before. All patients except for one, who was an offspring of a consanguineous marriage, were genetic compound with respect to the mutations found. Polymorphic sites A/G 1072 and A/G 1126, which were earlier revealed in exon 5 of the ASB gene, were found in five out of ten patients studied. The spectrum of mutant alleles of the ASB gene was highly specific and agreed with the characteristics of the population genetic load.