Non-random association of the Rsa I polymorphic site 5' to the beta-globin gene with major sickle cell haplotypes.
There are three main African haplotypes associated with the sickle mutation on chromosome 11. We have examined an Rsa I polymorphism 550 bp 5' to the beta-globin gene to study the degree of linkage disequilibrium between this Rsa I site and the three haplotypes. This Rsa I site is contained within the 10.3 kb or less area of randomization separating the 5'- and 3'-haplotype clusters. The beta S-containing chromosomes of the Benin and Senegal haplotypes are not cut, while those of the Central African Republic are cleaved by Rsa I at this site. Possible explanations of these findings are discussed.
D000755:Anemia, Sickle Cell / Q000208:ethnology / Q000235:genetics*; D001541:Benin; D002488:Central African Republic; D002880:Chromosomes, Human, Pair 11; D004262:DNA Restriction Enzymes; D015252:Deoxyribonucleases, Type II Site-Specific; D005914:Globins / Q000235:genetics*; D006801:Humans; D011110:Polymorphism, Genetic; D012150:Polymorphism, Restriction Fragment Length; D012675:Senegal
D005914:Globins; D004262:DNA Restriction Enzymes; D015252:Deoxyribonucleases, Type II Site-Specific; C040158:GTAC-specific type II deoxyribonucleases