Atalay Erol O, Atalay Ayfer, Ustel Emre, Yildiz Sanem, Oztürk Onur, Köseler Aylin, Bahadir Anzel
Department of Biophysics, Medical Faculty, Pamukkale University, Denizli, Turkey.
Hemoglobin. 2007;31(3):387-91. doi: 10.1080/03630260701459416.
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.
血红蛋白D-洛杉矶（也称为D-旁遮普、D-北卡罗来纳、D-葡萄牙、D-芝加哥和橡树岭）是一种异常血红蛋白（Hb），在β珠蛋白基因的第121密码子处，谷氨酸被谷氨酰胺取代。血红蛋白D-洛杉矶的起源和传播尚不清楚。这是由于缺乏相关信息，仍有待阐明。根据已发表的报告，血红蛋白D-洛杉矶突变大多与地中海单倍型I[+-+- - ++]相关。除了地中海单倍型外，泰国还报告了一种新的单倍型[-- ++ - - +++]。在此，我们报告了一种来自土耳其的此前未被描述的新单倍型[- + - - +++]。这些结果表明，血红蛋白D-洛杉矶突变至少有三种不同的遗传起源。
