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About ecd site map    help faq    widget contact us energy citations database adopt-a-doc? Home  •  basic search  •  fielded search  •  alerts  •  document availability a second mutation associated with apparent [beta]-hexosaminidase a pseudodeficiency: identification and frequency estimation description/abstract deficient activity of [beta]-hexosaminidase a (hex a), resulting from mutations in the hexa gene, typically causes tay-sachs disease. However, healthy individuals lacking hex a activity against synthetic substrates (i. E. , individuals who are pseudodeficient) have been described. Recently, an apparently benign c[sub 739]-to-t (arg247trp) mutation was found among individuals with hex a levels indistinguishable from those of carriers of tay-sachs disease. This allele, when in compound heterozygosity with a second [open quotes]disease-causing[close quotes] allele, results in hex a pseudodeficiency. The authors examined the hexa gene of a healthy 42-year-old who was hex a deficient but did not have the c[sub 739]-to-t mutation. The hexa exons were pcr amplified, and the products were analyzed for mutations by using restriction-enzyme digestion or single-strand gel electrophoresis. A g[sub 805]-to-a (gly269ser) mutation associated with adult-onset g[sub m2] gangliosidosis was found on one chromosome. A new mutation, c[sub 745]-to-t (arg 249trp), was identified on the second chromosome. This mutation was detected in an additional 4/63 (6%) non-jewish and 0/218 ashkenazi jewish enzyme-defined carriers. Although the arg249trp change may result in a late-onset form of g[sub m2] gangliosidosis, any phenotype must be very mild. This new mutation and the benign c[sub 739]-to-t mutation together account for [approximately]38% of non-jewish enzyme-defined carriers. Because carriers of the c[sub 739]-to-t and c[sub 745]-to-t mutations cannot be differentiated from carriers of disease-causing alleles by using the classical biochemical screening approaches, dna-based analyses for these mutations should be offered for non-jewish enzyme-defined heterozygotes, before definitive counseling is provided. 46 refs. , 5 figs. cheap viagra online , 2 tabs. order viagra Authors: cao, z. ; chabot, t. viagra for women after menopause ; triggs-raine, b. buy viagra canada L. (univ. Of manitoba, winnepeg (canada)); natowicz, m. R. ; prence, e. is there a generic viagra yet M. pharmacological mechanism viagra (shriver center for mental retardation, waltham, ma (united states) harvard medical school, boston, m. viagra canada