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

Molecular genetic analysis of the gene for arylsulfatase B (ASB) was conduc ted 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 metho d. Fourteen mutant alleles were identified in the sample studied by means o f DNA analysis; 13 of them had not been described before. All patients exce pt for one, who was an offspring of a consanguineous marriage, were genetic compounds 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 f ound 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 th e population genetic load.