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

Dimitrios Avramopoulos, Tara Cox, Jan P. Kraus, Aravinda Chakravarti, Stylianos E. Antonarakis

Research output: Contribution to journalArticlepeer-review

Abstract

We used single-strand conformation polymorphism (SSCP) to detect DNA polymorphisms in the 3′ untranslated (3′UT) region of the gene for cystathionine β-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.

Original languageEnglish (US)
Pages (from-to)566-568
Number of pages3
JournalHuman genetics
Volume90
Issue number5
DOIs
StatePublished - Jan 1993

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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