Genetic origin of Hb D-Los Angeles [beta 121(GH4)Glu -> Gln, GAA -> CAA] according to the beta-globin gene cluster haplotypes


ATALAY E. O. , ATALAY A., UESTEL E., YILDIZ S., Oeztuerk O. , KOESELER A., ...Daha Fazla

HEMOGLOBIN, cilt.31, ss.387-391, 2007 (SCI İndekslerine Giren Dergi) identifier identifier identifier

  • Cilt numarası: 31 Konu: 3
  • Basım Tarihi: 2007
  • Doi Numarası: 10.1080/03630260701459416
  • Dergi Adı: HEMOGLOBIN
  • Sayfa Sayıları: ss.387-391

Özet

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.