Multiple recombination events are responsible for the heterogeneity of alpha(+)-thalassemia haplotypes among the forest tribes of Andhra Pradesh, India.
The presence of several polymorphic markers along the alpha-globin gene complex allows the identification of haplotypes associated with alpha-thalassemia determinants. These are found at very high frequencies in geographic areas where malaria is or has been endemic which suggests a positive selective role by the parasitic disease in favour of alpha(+)-thalassemia mutants. A population survey among forest tribal communities from Andhra Pradesh, India, revealed the prevalence and molecular heterogeneity of alpha(+)-thalassemia determinants presumably due to a long backdated malaria endemicity among these populations. Analysis of the tribal alpha-thalassemia haplotypes has shown a great degree of genetic heterogeneity which can be explained as the result of multiple recombination events in the presence of natural selection by malaria.
Fodde
R
R
Department of Human Genetics, Sylvius Laboratory, University of Leiden, The Netherlands.
Harteveld
C L
CL
Losekoot
M
M
Giordano
P C
PC
Khan
P M
PM
Nayudu
N V
NV
Bernini
L F
LF
D000483:Alleles; D002885:Chromosomes, Human, Pair 16; D005787:Gene Frequency; D005914:Globins / Q000235:genetics; D006239:Haplotypes / Q000235:genetics*; D006801:Humans; D007194:India; D008288:Malaria / Q000150:complications; D011995:Recombination, Genetic; D013789:Thalassemia / Q000150:complications / Q000235:genetics*
D005914:Globins