Characterization of mutations in the cystathionine beta-synthase gene in Irish patients with homocystinuria

Authors
Gallagher, PM Naughten, E Hanson, NQ Schwichtenberg, K Bignell, M Yuan, M Ward, P Yap, S Whitehead, AS Tsai, MY
Citation
Pm. Gallagher et al., Characterization of mutations in the cystathionine beta-synthase gene in Irish patients with homocystinuria, MOL GEN MET, 65(4), 1998, pp. 298-302
Citations number
21
Categorie Soggetti
Molecular Biology & Genetics
Journal title
MOLECULAR GENETICS AND METABOLISM
ISSN journal
10967192 → ACNP
Volume
65
Issue
4
Year of publication
1998
Pages
298 - 302
Database
ISI
SICI code
1096-7192(199812)65:4<298:COMITC>2.0.ZU;2-#
Abstract
We used single-strand conformational polymorphism and nucleotide sequencing to characterize defective cystathionine beta-synthase gene alleles in 18 i ndependent Irish patients with homocystinuria. Six mutations were detected, three of which have been reported previously and three of which were novel . The novel mutations include T302C (L101P), C(684)G (N228H), and G(1063)C (A354P). Of the three, only T302C (L101P) was somewhat prevalent, being fou nd in 3 of 37 independent alleles. (C) 1998 Academic Press.