Direct measurement of the male recombination fraction in the human beta-globin hot spot.

Recombination was measured across nine intervals in the human beta-globin gene cluster by single-sperm analysis. A recombination fraction of approximately 0.9% was calculated across an approximately 11 kb region using a new method to estimate recombination fractions from single-sperm typing data. No...

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Main Authors: Schneider, J, Peto, T, Boone, R, Boyce, A, Clegg, J
Format: Journal article
Language:English
Published: 2002
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author Schneider, J
Peto, T
Boone, R
Boyce, A
Clegg, J
author_facet Schneider, J
Peto, T
Boone, R
Boyce, A
Clegg, J
author_sort Schneider, J
collection OXFORD
description Recombination was measured across nine intervals in the human beta-globin gene cluster by single-sperm analysis. A recombination fraction of approximately 0.9% was calculated across an approximately 11 kb region using a new method to estimate recombination fractions from single-sperm typing data. No recombination was detected in an adjacent approximately 90 kb region that extends upstream of the beta-globin cluster. These data are consistent with previous estimates based on population genetic analysis, and suggest a recombination rate of nearly two orders of magnitude greater than the genome average of approximately 1 cM/Mb. Because recombination hot spots will destroy linkage disequilibrium across small physical regions, knowledge about the location and strength of such hot spots could be extremely valuable for genetic association studies.
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spelling oxford-uuid:5b582f4f-90e5-4faa-8010-a0492f8e291b2022-03-26T17:21:28ZDirect measurement of the male recombination fraction in the human beta-globin hot spot.Journal articlehttp://purl.org/coar/resource_type/c_dcae04bcuuid:5b582f4f-90e5-4faa-8010-a0492f8e291bEnglishSymplectic Elements at Oxford2002Schneider, JPeto, TBoone, RBoyce, AClegg, JRecombination was measured across nine intervals in the human beta-globin gene cluster by single-sperm analysis. A recombination fraction of approximately 0.9% was calculated across an approximately 11 kb region using a new method to estimate recombination fractions from single-sperm typing data. No recombination was detected in an adjacent approximately 90 kb region that extends upstream of the beta-globin cluster. These data are consistent with previous estimates based on population genetic analysis, and suggest a recombination rate of nearly two orders of magnitude greater than the genome average of approximately 1 cM/Mb. Because recombination hot spots will destroy linkage disequilibrium across small physical regions, knowledge about the location and strength of such hot spots could be extremely valuable for genetic association studies.
spellingShingle Schneider, J
Peto, T
Boone, R
Boyce, A
Clegg, J
Direct measurement of the male recombination fraction in the human beta-globin hot spot.
title Direct measurement of the male recombination fraction in the human beta-globin hot spot.
title_full Direct measurement of the male recombination fraction in the human beta-globin hot spot.
title_fullStr Direct measurement of the male recombination fraction in the human beta-globin hot spot.
title_full_unstemmed Direct measurement of the male recombination fraction in the human beta-globin hot spot.
title_short Direct measurement of the male recombination fraction in the human beta-globin hot spot.
title_sort direct measurement of the male recombination fraction in the human beta globin hot spot
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