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

doi:10.1073/pnas.86.23.9389

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 journal › Article › peer-review

170 Scopus citations

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 language	English (US)
Pages (from-to)	9389-9393
Number of pages	5
Journal	Proceedings of the National Academy of Sciences of the United States of America
Volume	86
Issue number	23
DOIs	https://doi.org/10.1073/pnas.86.23.9389
State	Published - 1989
Externally published	Yes

Keywords

genetic recombination
linkage

ASJC Scopus subject areas

General

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10.1073/pnas.86.23.9389

Cite this

Cui, X., Li, H., Goradia, T. M., Lange, K., Kazazian, H. H., Galas, D., & Arnheim, N. (1989). 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. Proceedings of the National Academy of Sciences of the United States of America, 86(23), 9389-9393. https://doi.org/10.1073/pnas.86.23.9389

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. / Cui, X.; Li, H.; Goradia, T. M. et al.
In: Proceedings of the National Academy of Sciences of the United States of America, Vol. 86, No. 23, 1989, p. 9389-9393.

Research output: Contribution to journal › Article › peer-review

Cui, X, Li, H, Goradia, TM, Lange, K, Kazazian, HH, Galas, D & Arnheim, N 1989, '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', Proceedings of the National Academy of Sciences of the United States of America, vol. 86, no. 23, pp. 9389-9393. https://doi.org/10.1073/pnas.86.23.9389

Cui X, Li H, Goradia TM, Lange K, Kazazian HH, Galas D et al. 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. Proceedings of the National Academy of Sciences of the United States of America. 1989;86(23):9389-9393. doi: 10.1073/pnas.86.23.9389

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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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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

Keywords

ASJC Scopus subject areas

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