Genetic origin of Hb D-Los Angeles [beta121(GH4)Glu-->Gln, GAA-->CAA] according to the beta-globin gene cluster haplotypes.
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.
Atalay
Erol O
EO
Department of Biophysics, Medical Faculty, Pamukkale University, Denizli, Turkey. eatalay@pau.edu.tr
Atalay
Ayfer
A
Ustel
Emre
E
Yildiz
Sanem
S
Oztürk
Onur
O
Köseler
Aylin
A
Bahadir
Anzel
A
D005914:Globins / Q000235:genetics*; D006239:Haplotypes; D006455:Hemoglobins, Abnormal / Q000235:genetics*; D006801:Humans; D005810:Multigene Family; D011157:Population Dynamics; D014421:Turkey / Q000208:ethnology
D006455:Hemoglobins, Abnormal; D005914:Globins; C026237:hemoglobin D Punjab