Abstract
Within the eγδβ-globin gene region a non-random association of polymorphic restriction sites 5′ and 3′ to the δ globin gene has been observed. Between these two clusters lies a 9 kb region including the δ-globin gene which may contain sites of increased recombination. Analysis of DNA from an Albanian family revealed a novel Rsa I site 550 bp 5′ to the β-globin gene within the 9 kb region. One maternal and one paternal chromosome were identical at 9 polymorphic sites but differed at the Rsa site. This finding suggests that this polymorphism is randomly associated with previously defined haplotypes. Population screening showed the presence of this site in people of northern European, Mediterranean, Middle Eastern, African, Southeast Asian and Asian Indian descent, with an overall frequency of 0.39. DNA regions with βA, βS,βE and β-thalassemia alleles carrying and lacking the Rsa site were also identified. In one individual sequence analysis showed 28 alternating purine-pyrimidine dinucleotides in the region containing the Rsa site, rather than the 26 previously found in other individuals, suggesting that unequal crossing-over in this immediate region may lead to randomization of 5′ and 3′ polymorphic clusters.
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