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Simultaneous detection and screening of T833C and G919A mutations of the cystathionine β-synthase gene by single-strand conformational polymorphism

✍ Scribed by Michael Y. Tsai; Naomi Q. Hanson; Michelle K. Bignell; Kerry A. Schwichtenberg

Publisher
Elsevier Science
Year
1996
Tongue
English
Weight
606 KB
Volume
29
Category
Article
ISSN
0009-9120

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✦ Synopsis

Objective: We used single-,'~trand conformational polymorphism (SSCP) to screen for mutations at nucleotides 833 and 919 of the cystathionine ~-synthase (CBS) gene in 13 patients with homocystinuria and 11 of their relatives.

Methods: Exon 8 of genomic DNA was selectively amplified by PCR using primers derived from intronic sequences of the human CBS gene. SSCP analysis was p,~rformed on the amplified products. Genotypes identified by SSCP were confirmed by DNA sequencing and an allele-specific PCR method.

Results: SSCP identified 5 patterns corresponding to five genotypes. We confirmed that the different genotypes result from mutations at nucleotides 833 and 919 of the CBS gene, and that these 2 mutations account for approximately 50% of affected alleles in homocystinuria patients.

Conclusion:

Our recent elucidation of intron-exon borders and intronic sequences of the CBS gene has made possible the use of SSCP to screen for known/unknown mutations in the CBS gene.

Because T8330 and G919A represent the two most common mutations and both are located within exon 8 of the CBS gene, SSCP of exon 8 allows screening of the heterozygous carrier state of these mutations in a large population, to determine the importance of heterozygosity of CBS mutations as the cause of mild hyperhomocyst(e)inemia associated with premature vascular diseases.

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