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- W342124705 abstract "Human cystathionine beta-synthase (CBS, EC4.2.1.22) deficiency results in a recessive genetic disorder whose clinical and biochemical manifestations vary greatly among affected individuals. Additionally, individuals heterozygous for mutations in the CBS gene may be at increased risk for stroke. In an effort to identify and analyze mutations in human CBS cDNA, we have developed a yeast expression system for human CBS. This system uses expression of the human CBS cDNA in yeast to complement a mutation in the endogenous yeast CBS gene. Thus, yeast cells expressing a functional human CBS are able to grow on media lacking cysteine. We have now used this yeast expression system in combination with RT-PCR to genotype patient samples with respect to CBS. So far, we have studied eight samples: 3 normal controls, 3 obligate heterozygotes, and 2 homozygotes. We find that the homozygotes give rise to no Cys{sup +} colonies as the normal controls. These studies suggest that the yeast assay accurately reflects the functional consequences of CBS mutations in man and demonstrate the utility of a yeast assay in the study of human genetic disease." @default.
- W342124705 created "2016-06-24" @default.
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- W342124705 date "1994-09-01" @default.
- W342124705 modified "2023-09-23" @default.
- W342124705 title "Identification and analysis of mutations in the human cystathionine beta-synthase gene using a yeast assay" @default.
- W342124705 hasPublicationYear "1994" @default.
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