%0 Journal Article %1 guy1991nucleotide %A Trabuchet, Guy %A Elion, Jacques %A Dunda, Olga %A Lapouméroulie, Claudine %A Ducrocq, Rolande %A Nadifi, Sellama %A Zohoun, Isidore %A Chaventre, Andre %A Carnevale, Pierre %A Nagel, Ronald L. %A Krishnamoorthy, Rajagopal %A Labie, Dominique %D 1991 %J Human Genetics %K malaria sicklecell %N 5 %P 597--601 %T Nucleotide sequence evidence of the unicentric origin of the βC mutation in Africa %U http://dx.doi.org/10.1007/BF00209020 %V 87 %X The origin of the ß C mutation was studied by characterizing nucleotide sequence polymorphisms on ß C chromosomes of patients from various African countries. In the majority of cases, the ß C mutation was found in linkage disequilibrium with a single chromosomal structure as defined by classical RFLP haplotypes, intergenic nucleotide sequence polymorphisms immediately upstream of the ß-globin gene, and intragenic ß-globin gene polymorphisms (frameworks). In addition, three atypical variant chromosomes carrying the ß C mutation were observed, and are most probably explained either by a meiotic recombination (two cases) or by one nucleotide substitution occurring in an unstable array of tandemly repeated sequences (one case). These data demonstrate the unicentric origin of the ß C mutation in central West Africa, with subsequent mutational modification in a small number of instances. The data also supports gene flow of the ß C chromosome from subsaharan Africa to North Africa. ER -

@article{guy1991nucleotide, abstract = {The origin of the ß C mutation was studied by characterizing nucleotide sequence polymorphisms on ß C chromosomes of patients from various African countries. In the majority of cases, the ß C mutation was found in linkage disequilibrium with a single chromosomal structure as defined by classical RFLP haplotypes, intergenic nucleotide sequence polymorphisms immediately upstream of the ß-globin gene, and intragenic ß-globin gene polymorphisms (frameworks). In addition, three atypical variant chromosomes carrying the ß C mutation were observed, and are most probably explained either by a meiotic recombination (two cases) or by one nucleotide substitution occurring in an unstable array of tandemly repeated sequences (one case). These data demonstrate the unicentric origin of the ß C mutation in central West Africa, with subsequent mutational modification in a small number of instances. The data also supports gene flow of the ß C chromosome from subsaharan Africa to North Africa. ER -}, added-at = {2009-12-30T18:51:28.000+0100}, author = {Trabuchet, Guy and Elion, Jacques and Dunda, Olga and Lapouméroulie, Claudine and Ducrocq, Rolande and Nadifi, Sellama and Zohoun, Isidore and Chaventre, Andre and Carnevale, Pierre and Nagel, Ronald L. and Krishnamoorthy, Rajagopal and Labie, Dominique}, biburl = {https://www.bibsonomy.org/bibtex/2edf69dbfdebd37688ba851f7d0c4f255/gcoop}, description = {SpringerLink - Journal Article}, interhash = {63f78d02ab632c7f514b97075ebb233e}, intrahash = {edf69dbfdebd37688ba851f7d0c4f255}, journal = {Human Genetics}, keywords = {malaria sicklecell}, month = {#sep#}, number = 5, pages = {597--601}, timestamp = {2009-12-30T18:51:28.000+0100}, title = {Nucleotide sequence evidence of the unicentric origin of the βC mutation in Africa}, url = {http://dx.doi.org/10.1007/BF00209020}, volume = 87, year = 1991 }