Cloned DNA probes regionally mapped to human chromosome 21 and their use in determining the origin of nondisjunction

Gordon D. Stewart, P. Harris, J. Galt, M. A. Ferguson-Smith

Research output: Contribution to journalArticle

55 Scopus citations

Abstract

A number of unique sequence recombinont DNA clones were isolated from a recombinant DNA library constructed from DNA enriched for chromosome 21 by flow sorting. Of these, five were mapped to chromosome 21 using a somatic cell hybrid. Regional mapping of these probes and of a probe previously assigned to chromosome 21, was carried out with the aid of chromosome 21 rearrangements using both chromosome sorting and a somatic cell hybrid. Three probes were 3hown to be located on either side of the breakpoint 21q21.2. Two of the probes were shown to identify restriction fragment length polymorphisms (RFLPs ) with high rare-allele frequencies (0.46 and 0.43). A Bgl II RFLP revealed the parental origin of non-disjunction in three of ten families with Down's syndrome.

Original languageEnglish (US)
Pages (from-to)4125-4132
Number of pages8
JournalNucleic acids research
Volume13
Issue number11
DOIs
StatePublished - Jun 11 1985

ASJC Scopus subject areas

  • Genetics

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