Brune J L, Yang F, Barnett D R, Bowman B H
Nucleic Acids Res. 1984 Jun 11;12(11):4531-8. doi: 10.1093/nar/12.11.4531.
Haptoglobin is a transport glycoprotein which removes free hemoglobin from the circulation of vertebrates. In human populations haptoglobin is polymorphic due to three alleles, Hp alpha 1F, Hp alpha 1S and Hp alpha 2. The Hp alpha 2 allele is roughly twice the length of the Hp alpha 1 alleles and is the product of a partial gene duplication possibly resulting from an unequal crossover event in a heterozygous genotype Hp alpha 1F/Hp alpha 1S. In the study described here we compare the cDNA encoding Hp alpha 1S to that encoding Hp alpha 2FS . Both have a leader sequence followed by the genotypic alpha chain sequence, a beta sequence and an untranslated sequence in the 3' end. The cDNA encoding Hp alpha 2FS is composed of alpha 1F and alpha 1S domains differing by four nucleotide replacements. Hp alpha 1S cDNA contains the same replacement site mutations found in the alpha 1S domain of Hp alpha 2FS , indicating that this coding region has sustained few, if any, mutations since its incorporation into the Hp alpha 2FS gene.
触珠蛋白是一种运输糖蛋白，可从脊椎动物的循环系统中清除游离血红蛋白。在人类群体中，由于存在三种等位基因Hpα1F、Hpα1S和Hpα2，触珠蛋白具有多态性。Hpα2等位基因的长度约为Hpα1等位基因的两倍，是部分基因重复的产物，可能源于杂合基因型Hpα1F/Hpα1S中的不等交换事件。在本文所述的研究中，我们将编码Hpα1S的cDNA与编码Hpα2FS的cDNA进行了比较。两者都有一个前导序列，随后是基因型α链序列、一个β序列和3'端的非翻译序列。编码Hpα2FS的cDNA由α1F和α1S结构域组成，两者有四个核苷酸替换的差异。Hpα1S cDNA包含在Hpα2FS的α1S结构域中发现的相同替换位点突变，这表明该编码区域自并入Hpα2FS基因以来，如果有突变的话，也很少。
