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, Haig Kazazian, D. Galas, N. Arnheim

Research output: Contribution to journalArticle

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
Externally publishedYes

Fingerprint

Globins
Parathyroid Hormone
Genetic Recombination
Spermatozoa
Alleles
Polymerase Chain Reaction
Sample Size
Chromosomes, Human, Pair 11
Human Chromosomes
Oligonucleotides
Confidence Intervals
Technology

Keywords

  • genetic recombination
  • linkage

ASJC Scopus subject areas

  • Genetics
  • General

Cite this

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title = "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",
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.",
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T2 - Determination of genetic distance between the (G)γ-globin and parathyroid hormone loci by using the polymerase chain reaction and allele-specific oligomers

AU - Cui, X.

AU - Li, H.

AU - Goradia, T. M.

AU - Lange, K.

AU - Kazazian, Haig

AU - Galas, D.

AU - Arnheim, N.

PY - 1989

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