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https://hdl.handle.net/11499/4218
Title: | Genetic origin of Hb D-Los Angeles [ß121(GH4)Glu›Gln, GAA›CAA] according to the ß-globin gene cluster haplotypes | Authors: | Atalay, Erol Ömer. Atalay, Ayfer. Üstel, E. Yıldız, Sanem. Öztürk, Onur. Köseler, Aylin. Bahadır, Ander. |
Keywords: | Genetic origin Haplotypes Hb D-Los Angeles beta globin glutamic acid glutamine hemoglobin d punjab hemoglobin variant unclassified drug amino acid substitution article gene cluster gene mutation haplotype heterozygosity polymerase chain reaction Turkey (republic) Globins Hemoglobins, Abnormal Humans Multigene Family Population Dynamics Turkey |
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 ß-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. Copyright © Informa Healthcare. | URI: | https://hdl.handle.net/11499/4218 https://doi.org/10.1080/03630260701459416 |
ISSN: | 0363-0269 |
Appears in Collections: | PubMed İndeksli Yayınlar Koleksiyonu / PubMed Indexed Publications Collection Scopus İndeksli Yayınlar Koleksiyonu / Scopus Indexed Publications Collection Tıp Fakültesi Koleksiyonu WoS İndeksli Yayınlar Koleksiyonu / WoS Indexed Publications Collection |
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