title: Genetic origin of Hb D-Los Angeles [beta121(GH4)Glu-->Gln, GAA-->CAA] according to the beta-globin gene cluster haplotypes.
abstract: Hb D-Los Angeles (also known as D-Punjab, D-North Carolina, D-Portugal, D-Chicago and Oak Ridge) is an abnormal hemoglobin (Hb) with an amino acid substitution of glutamine for glutamic acid at codon 121 of the beta-globin gene. The origin and spread of Hb D-Los Angeles is not known. This is due to lack of information and remains to be elucidated. According to published reports, the Hb D-Los Angeles mutation is mostly linked with Mediterranean haplotype I [+ - - - - + +]. Besides the Mediterranean haplotype, a novel haplotype was also reported from Thailand [- - + + - - + + +]. Here we report a new haplotype from Turkey [- + -- + + +] that has not been described before. These results suggest that the Hb D-Los Angeles mutation has at least three different genetic origins.
authors.affiliation: Department of Biophysics, Medical Faculty, Pamukkale University, Denizli, Turkey. eatalay@pau.edu.tr
authors.forename: Erol O
authors.initials: EO
authors.lastname: Atalay
authors.forename: Ayfer
authors.initials: A
authors.lastname: Atalay
authors.forename: Emre
authors.initials: E
authors.lastname: Ustel
authors.forename: Sanem
authors.initials: S
authors.lastname: Yildiz
authors.forename: Onur
authors.initials: O
authors.lastname: Oztürk
authors.forename: Aylin
authors.initials: A
authors.lastname: Köseler
authors.forename: Anzel
authors.initials: A
authors.lastname: Bahadir
mesh_terms: D005914:Globins / Q000235:genetics*; D006239:Haplotypes; D006455:Hemoglobins, Abnormal / Q000235:genetics*; D006801:Humans; D005810:Multigene Family; D011157:Population Dynamics; D014421:Turkey / Q000208:ethnology
chemical_list: D006455:Hemoglobins, Abnormal; D005914:Globins; C026237:hemoglobin D Punjab