AIMTo explore the molecular biological mechanism of hemoglobin with high oxygen affinity in Tibetans by determining the sequence of globin cDNA in Tibetans living at high altitude.

METHODSTotal RNA was isolated from human bone marrow samples of three Tibetans who live in Qinghai-Tibet plateau. cDNA fragments coding for alpha and beta genes of human hemoglobin were obtained through RT-PCR and were ligated to plasmid pGEM-T easy vectors, and then the ligation liquid were transformed to Escherichia coli and cloned and sequenced. Nucleotide sequences were compared with GenBank data by BLAST method.

RESULTSsequence of a globin cDNA in Tibetans were the same with the registering globin genes in the GenBank, and Hb Abruzzo (beta143 (H21), His- > Arg) gene mutation, a high oxygen affinity beta globin mutation, was found in one Tibetan' beta goblin coding gene (CAC- > CGC).

CONCLUSIONThis hemoglobin gene mutation may be associated with high altitude adaptation of Tibetans living at high altitude.

Adult ; Altitude ; Asian Continental Ancestry Group ; genetics ; Cloning, Molecular ; DNA, Complementary ; genetics ; Hemoglobins, Abnormal ; genetics ; Humans ; Male ; Middle Aged ; Molecular Sequence Data ; RNA ; Sequence Analysis, DNA ; Tibet ; alpha-Globins ; genetics ; beta-Globins ; genetics