Isolation and regional localization of DNA segments revealing polymorphic loci from human chromosome 13

W. Cavenee, R. Leach, T. Mohandas, P. Pearson, R. White

Research output: Contribution to journalArticle

135 Scopus citations

Abstract

A recombinant DNA library enriched for portions of human chromosome 13 has been constructed from a hamster human somatic cell hybrid that contained human chromosomes 13, 12, and 6p. A total of 733 phages were identified that contain human DNA inserts, and 46 single-copy subfragments have been derived and used as probes on Southern transfers of genomic DNA isolated from unrelated individuals. From this set, nine fragments revealing polymorphic loci (RFLP) in Msp I- or Taq I- digested DNA have been identified, of which three are polymorphic with both enzymes. Six of these probes have been shown to segregate concordantly with human chromosome 13 in a somatic cell hybrid mapping panel, and the RFLPs at these loci have been shown to behave as codominant Mendelian alleles. Additionally, hybridization to DNA isolated from cells containing various deletions of chromosome 13 has allowed regional localization. This recombinant DNA library will be useful in the study of retinoblastoma as well as in the study of the mechanisms responsible for abnormalities of this autosome.

Original languageEnglish (US)
Pages (from-to)10-24
Number of pages15
JournalAmerican Journal of Human Genetics
Volume36
Issue number1
StatePublished - Apr 13 1984
Externally publishedYes

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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