The β-Globin Recombinational Hotspot Reduces the Effects of Strong Selection around HbC, a Recently Arisen Mutation Providing Resistance to Malaria

The β-Globin Recombinational Hotspot Reduces the Effects of Strong Selection around HbC, a Recently Arisen Mutation Providing Resistance to Malaria

Recombination is expected to reduce the effect of selection on the extent of linkage disequilibrium (LD), but the impact that recombinational hotspots have on sites linked to selected mutations has not been investigated. We empirically determine chromosomal linkage phase for 5.2 kb spanning the β-gl...

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Veröffentlicht in:American journal of human genetics 2005-10, Vol.77 (4), p.637-642
Hauptverfasser: Wood, Elizabeth T., Stover, Daryn A., Slatkin, Montgomery, Nachman, Michael W., Hammer, Michael F.
Format: Artikel
Sprache:eng
Schlagworte:
Biological and medical sciences
General aspects. Genetic counseling
Globins - genetics
Hemoglobin C - genetics
Human protozoal diseases
Humans
Infectious diseases
Linkage Disequilibrium
Malaria
Malaria - genetics
Medical genetics
Medical sciences
Mutation
Parasitic diseases
Protozoal diseases
Recombination, Genetic
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Zusammenfassung:Recombination is expected to reduce the effect of selection on the extent of linkage disequilibrium (LD), but the impact that recombinational hotspots have on sites linked to selected mutations has not been investigated. We empirically determine chromosomal linkage phase for 5.2 kb spanning the β-globin gene and hotspot. We estimate that the HbC mutation, which is positively selected because of malaria, originated
ISSN:0002-9297
1537-6605
DOI:10.1086/491748