Oliviero S, DeMarchi M, Bensi G, Raugei G, Carbonara A O
Hum Genet. 1985;70(1):66-70. doi: 10.1007/BF00389461.
Direct gene analysis of the haptoglobin gene region was carried out by Southern blotting using an Hp cDNA as probe. Two types of polymorphism were observed: one due to intragenic duplication, is characterized by a constant fragment length difference of 1700bp observed with several enzymes and by complete correspondence with the protein molecular weight polymorphism; the second type, due to point mutation, was represented by two additional restriction sites for Eco RI and Pst I, with a frequency comparable to that of other genes. These two mutations segregated together in families, suggesting that the recently described Hp related gene is closely linked to the Hp gene. Moreover, they were completely associated with each other. The evolutionary significance of this finding is discussed.
利用触珠蛋白（Hp）cDNA作为探针，通过Southern印迹法对触珠蛋白基因区域进行直接基因分析。观察到两种多态性：一种是由于基因内重复，其特征是用几种酶观察到恒定的1700bp片段长度差异，并且与蛋白质分子量多态性完全对应；第二种类型是由于点突变，由Eco RI和Pst I的另外两个限制性位点表示，其频率与其他基因相当。这两种突变在家族中一起分离，表明最近描述的与Hp相关的基因与Hp基因紧密连锁。此外，它们彼此完全相关。讨论了这一发现的进化意义。
