人类促红细胞生成素基因的染色体定位及其DNA多态性
Chromosomal assignment of the human erythropoietin gene and its DNA polymorphism.
作者信息
Law M L, Cai G Y, Lin F K, Wei Q, Huang S Z, Hartz J H, Morse H, Lin C H, Jones C, Kao F T
出版信息
Proc Natl Acad Sci U S A. 1986 Sep;83(18):6920-4. doi: 10.1073/pnas.83.18.6920.
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.
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。一个包含完整人类EPO编码区的cDNA克隆被用于对一系列含有不同人类染色体组合的人-中国仓鼠体细胞杂种进行Southern印迹分析。同线分析显示EPO基因与人类7号染色体之间100%一致。通过将3H标记的人类EPO cDNA与从人类淋巴细胞和包含人类5号、7号、9号、12号和21号染色体的细胞杂种879-2a制备的中期染色体进行原位杂交，进一步将其定位到q11-q22区域。此外，在中国人群中使用限制性内切酶HindIII或HinfI时，检测到限制性片段长度多态性的频率约为20%。这些多态性以孟德尔方式遗传。因此，EPO标记具有相当程度的多态性，应该有助于与7号染色体上的其他遗传标记（包括囊性纤维化基因座）进行连锁分析。
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