Dong Hong-bin, Hong Xin, Nie Hong-jing, Xiao Zhong-hai, He Gui-xiang, Hei Shang-han, Yin Zhao-yun
Institute of Health and Environmental Medicine, Tianjin 300050, China.
Zhongguo Ying Yong Sheng Li Xue Za Zhi. 2005 May;21(2):196-9.
To 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.
Total 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.
sequence 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).
This hemoglobin gene mutation may be associated with high altitude adaptation of Tibetans living at high altitude.
通过测定高原藏族人群珠蛋白cDNA序列，探讨藏族人高氧亲和力血红蛋白的分子生物学机制。
从三名生活在青藏高原的藏族人的人类骨髓样本中分离总RNA。通过RT-PCR获得编码人类血红蛋白α和β基因的cDNA片段，并将其连接到质粒pGEM-T easy载体上，然后将连接液转化到大肠杆菌中进行克隆和测序。通过BLAST方法将核苷酸序列与GenBank数据进行比较。
藏族人珠蛋白cDNA序列与GenBank中登记的珠蛋白基因相同，并且在一名藏族人的β珠蛋白编码基因（CAC->CGC）中发现了高氧亲和力β珠蛋白突变Hb Abruzzo（β143（H21），His->Arg）基因突变。
这种血红蛋白基因突变可能与高原藏族人群的高原适应性有关。
