A new dinucleotide repeat polymorphism at the telomere of chromosome 21q reveals a significant difference between male and female rates of recombination

J. L. Blouin, D. H. Christie, A. Gos, A. Lynn, M. A. Morris, D. H. Ledbetter, A. Chakravarti, S. E. Antonarakis

Research output: Contribution to journalArticlepeer-review

Abstract

We have used a half-YAC containing the human chromosome 21 long-arm telomere to clone, map, and characterize a new dinucleotide repeat polymorphism (D21S1575) close to 21qter. This marker is <120 kb from the telomeric (TTAGGG)(n) sequences and is the most distal highly polymorphic marker on chromosome 21q. This marker has a heterozygosity of 71% because of a variable (TA)(n) repeat embedded within a long interspersed element (LINE) element. Genotyping of the CEPH families and linkage analysis provided a more accurate determination of the full length of the chromosome 21 genetic map. A highly significant difference was detected between male and female recombination rates in the telomeric region: in the most telomeric 2.3 Mb of chromosome 21q, recombination was only observed in male meioses.

Original languageEnglish (US)
Pages (from-to)388-394
Number of pages7
JournalAmerican journal of human genetics
Volume57
Issue number2
StatePublished - 1995

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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