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High Prevalence of the I278T Mutation of the Human Cystathionine β-Synthase Detected by a Novel Screening Application
- Source :
- Thrombosis and Haemostasis. 85:986-988
- Publication Year :
- 2001
- Publisher :
- Georg Thieme Verlag KG, 2001.
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Abstract
- SummaryClassical homocystinuria due to cystathionine beta-synthase deficiency is one of the disorders revealing a high risk of thromboembolic events and vascular disease. This autosomal-recessively inherited metabolic disorder is considered to be rare with an estimated prevalence of 1:130,000 in the German population. In this study, we developed a novel multiplex PCR generating allele specific fragment lengths to analyse individual genotypes of the two most frequent cystathionine beta-synthase alterations, the I278T mutation, which is worldwide found on up to the half of homocystinuric alleles, and the adjacent polymorphism 844ins68. Screening of 200 unrelated German control subjects revealed a frequency of heterozygosity of 1.5% for I278T corresponding to a calculated frequency of homozygosity of 1:17.800. Our data indicate that homocystinuria due to cystathionine β-synthase deficiency is a frequently unrecognized disorder resulting in a high risk of thromboembolic events.
Details
- ISSN :
- 2567689X and 03406245
- Volume :
- 85
- Database :
- OpenAIRE
- Journal :
- Thrombosis and Haemostasis
- Accession number :
- edsair.doi...........5f69d09f587154afa326c3f74ece522c