title: Linkage mapping of the cystathionine beta-synthase (CBS) gene on human chromosome 21 using a DNA polymorphism in the 3' untranslated region.
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.
authors.affiliation: Department of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, MD 21205.
authors.forename: D
authors.initials: D
authors.lastname: Avramopoulos
authors.forename: T
authors.initials: T
authors.lastname: Cox
authors.forename: J P
authors.initials: JP
authors.lastname: Kraus
authors.forename: A
authors.initials: A
authors.lastname: Chakravarti
authors.forename: S E
authors.initials: SE
authors.lastname: Antonarakis
mesh_terms: D001483:Base Sequence; D016009:Chi-Square Distribution; D002874:Chromosome Mapping; D002891:Chromosomes, Human, Pair 21; D003541:Cystathionine beta-Synthase / Q000235:genetics*; D004277:DNA, Single-Stranded / Q000032:analysis; D005260:Female; D008040:Genetic Linkage; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic; D012150:Polymorphism, Restriction Fragment Length; D012045:Regulatory Sequences, Nucleic Acid
chemical_list: D004277:DNA, Single-Stranded; D003541:Cystathionine beta-Synthase