Novel mutations including the second most common in Japan, in the beta-hexosaminidase alpha subunit gene, and a simple screening of Japanese patientswith Tay-Sachs disease

Citation
A. Tanaka et al., Novel mutations including the second most common in Japan, in the beta-hexosaminidase alpha subunit gene, and a simple screening of Japanese patientswith Tay-Sachs disease, J HUM GENET, 44(2), 1999, pp. 91-95
Citations number
15
Language
INGLESE
art.tipo
Article
Categorie Soggetti
Molecular Biology & Genetics
Journal title
JOURNAL OF HUMAN GENETICS
ISSN journal
1434-5161 → ACNP
Volume
44
Issue
2
Year of publication
1999
Pages
91 - 95
Database
ISI
SICI code
1434-5161(1999)44:2<91:NMITSM>2.0.ZU;2-A
Abstract
Two novel mutations of the beta-hexosaminidase alpha subunit gene were iden tified in Japanese patients with the infantile form of Tay-Sachs disease. O ne mutation was a one-base deletion at nt613C, which generated a stop codon at two codons downstream, in three unrelated patients. The other mutation was a one-base substitution of G-lo-A at IVS 5, +1, which caused a splicing abnormality, in one patient. A missense mutation of R170W, which has alrea dy been reported in other ethnic groups, was also newly identified in one p atient. In 1993, the most common mutation (IVS 5, -1G --> T) in Japanese pa tients with Tay-Sachs disease was reported as the major mutation in Japan a ccounting for 80% of 56 mutant alleles from 28 unrelated patients. The dele tion of nt613C was the second most common mutation, accounting for 5% of th e mutant alleles. The previously reported mutation IVS 5, -1G --> T and the nt613C deletion found in this study together accounted for 85% of the muta tions causing Tay-Sachs disease among Japanese. Since these two mutations w ere located in or close to exon 6 and since they abolish Fok I (IVS 5, -1G --> T) and Sfa NI (nt613C deletion) restriction sites, respectively, they w ere screened rapidly by single polymerase chain reaction followed by digest ion with these enzymes.