Chromosomal assignment of the human erythropoietin gene and its DNA polymorphism.
Chromosomal assignment of the human erythropoietin gene and its DNA polymorphism.
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人类促红细胞生成素基因的染色体分配及其DNA多态性。
DOI：
10.1073/pnas.83.18.6920
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发表时间：
1986
影响因子：
11.1
通讯作者：
Kao,FT
中科院分区：
文献类型：
--
作者：
Law,ML;Cai,GY;Lin,FK;Wei,Q;Huang,SZ;Hartz,JH;Morse,H;Lin,CH;Jones,C;Kao,FT
促红细胞生成素（EPO）是一种糖蛋白激素，是哺乳动物红细胞生成的主要生理调节因子。利用含有人类epo编码区的cDNA克隆，对一系列含有不同人类染色体组合的人-中国仓鼠体细胞杂交体进行了Southern blot分析。基因序列分析显示，EPO基因与人类第7染色体的一致性为100%。通过将3h标记的人EPO cDNA与从人淋巴细胞和含有人染色体5、7、9、12和21的细胞杂种879-2a制备的中期染色体原位杂交，进一步定位到q11-q22区域。此外，使用限制性内切酶HindIII或HinfI在中国人群中检测到的限制性内切片段长度多态性频率约为20%。这些多态性以孟德尔的方式遗传。因此，EPO标记具有合理的多态性，在与7号染色体上的其他遗传标记（包括囊性纤维化位点）的连锁分析中应该是有用的。
Erythropoietin (EPO), a glycoprotein hormone, is the major physiological regulator of erythrocyte production in mammals. A cDNA clone containing the entire human EPO-coding region was used for Southern blot analysis of a series of human-Chinese hamster somatic cell hybrids containing different combinations of human chromosomes. Synteny analysis revealed 100% concordance between the EPO gene and human chromosome 7. Further localization to the region q11-q22 was accomplished by in situ hybridization of 3H-labeled human EPO cDNA to metaphase chromosomes prepared from both human lymphocytes and the cell hybrid 879-2a that contained human chromosomes 5, 7, 9, 12, and 21. In addition, restriction fragment length polymorphisms were detected at a frequency of approximately 20% in a Chinese population using restriction enzymes either HindIII or HinfI. These polymorphisms were inherited in a Mendelian fashion. Thus, the EPO marker is reasonably polymorphic and should be useful in linkage analysis with other genetic markers on chromosome 7, including the locus for cystic fibrosis.