Linkage mapping of the cystathionine beta-synthase (CBS) gene on human chromosome 21 using a DNA polymorphism in the 3' untranslated region

D Avramopoulos; T Cox; J P Kraus; A Chakravarti; S E Antonarakis

doi:10.1007/BF00217460

Linkage mapping of the cystathionine beta-synthase (CBS) gene on human chromosome 21 using a DNA polymorphism in the 3' untranslated region

Hum Genet. 1993 Jan;90(5):566-8. doi: 10.1007/BF00217460.

Authors

D Avramopoulos¹, T Cox, J P Kraus, A Chakravarti, S E Antonarakis

Affiliation

¹ Department of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, MD 21205.

PMID: 8094069
DOI: 10.1007/BF00217460

Abstract

We used single-strand conformation polymorphism (SSCP) to detect DNA polymorphisms in the 3' untranslated (3'UT) region of the gene for cystathionine beta-synthase (CBS). A polymorphism due to a T-to-C substitution at nucleotide 549 of the 3'UT region with heterozygosity of 46% has been identified. Genotypes for this polymorphism have been obtained in all of the informative CEPH families, and CBS has been placed in the linkage map of human chromosome 21.

Publication types

Research Support, U.S. Gov't, P.H.S.

MeSH terms

Base Sequence
Chi-Square Distribution
Chromosome Mapping*
Chromosomes, Human, Pair 21*
Cystathionine beta-Synthase / genetics*
DNA, Single-Stranded / analysis
Female
Genetic Linkage
Humans
Male
Molecular Sequence Data
Polymerase Chain Reaction
Polymorphism, Genetic*
Polymorphism, Restriction Fragment Length
Regulatory Sequences, Nucleic Acid

Substances

DNA, Single-Stranded
Cystathionine beta-Synthase

Grants and funding

etc