Single-sperm typing: Determination of genetic distance between the (G)γ-globin and parathyroid hormone loci by using the polymerase chain reaction and allele-specific oligomers

X. Cui, H. Li, T. M. Goradia, K. Lange, H. H. Kazazian, D. Galas, N. Arnheim

Research output: Contribution to journalArticlepeer-review

Abstract

The frequency of recombination between the (G)γ-globin (HBG2) and parathyroid hormone (PTH) loci on the short arm of human chromosome 11 was estimated by typing > 700 single-sperm samples from two males. The sperm-typing technique employed involves the polymerase chain reaction and allele-specific oligonucleotide hybridization. Our maximum likelihood recombination fraction estimate of 0.16 (95% confidence interval, 0.13-0.19) falls well within previous estimates based on family studies. With current technology and a sample size of 1000 sperm, recombination fractions down to ~ 0.009 can be estimated with statistical reliability; with a sample size of 5000 sperm, this value drops to about 0.004. Reasonable technological improvements could result in the detection of recombination frequencies < 0.001.

Original languageEnglish (US)
Pages (from-to)9389-9393
Number of pages5
JournalProceedings of the National Academy of Sciences of the United States of America
Volume86
Issue number23
DOIs
StatePublished - 1989

Keywords

  • genetic recombination
  • linkage

ASJC Scopus subject areas

  • General

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