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阿尔塔穆拉纳羊中额外α-珠蛋白基因的存在与血细胞性状之间的关系。

The relationship between the presence of extra alpha-globin genes and blood cell traits in Altamurana sheep.

作者信息

Pieragostini Elisa, Petazzi Ferruccio, Di Luccia Aldo

机构信息

Department of Engineering and Management of the Agricultural, Livestock and Forest Systems, University of Bari, Via Amendola 165/A, 70100 Bari, Italy.

出版信息

Genet Sel Evol. 2003;35 Suppl 1(Suppl 1):S121-33. doi: 10.1186/1297-9686-35-S1-S121.

Abstract

Additional alpha-globin genes in sheep might produce extra alpha-globin chains and, consequently, the subject carrying triplicated (alphaalphaalpha) or quadruplicated (alphaalphaalphaalpha) haplotypes may exhibit different hematological phenotypes when compared to the normal duplicated (alphaalpha) homozygotes (NN). Both alphaalphaalpha and alphaalphaalphaalpha heterozygous (ND) and alphaalphaalpha and alphaalphaalphaalpha homozygous (DD) individuals were obtained by selection and inbreeding. Chromatographic RP-HPLC analyses of the globin chains of 65 subjects (15 DD, 20 ND and 30 NN) were performed. A highly significant linear regression (r2 = 0.967) of the alpha/beta ratio on the number of alpha-globin genes was found, and the alpha/beta ratio ranged on average from 1.0 in NN individuals to 1.2 in the ND and 1.6 in the DD subjects. Values for blood fell within the range of normality but were rather peculiar as a whole. When the erythrocytes of individuals carrying normal arrangements were compared with those of subjects with extra alpha-genes, the latter had fewer erythrocytes that were bigger in size and had a higher Hb content and a greater osmotic fragility. This hematological picture is consistent with the existence of an unbalanced alpha/beta ratio.

摘要

绵羊中额外的α-珠蛋白基因可能会产生额外的α-珠蛋白链,因此,与正常的双倍体(αα)纯合子(NN)相比,携带三倍体(ααα)或四倍体(αααα)单倍型的个体可能表现出不同的血液学表型。通过选择和近交获得了ααα和αααα杂合子(ND)以及ααα和αααα纯合子(DD)个体。对65名受试者(15名DD、20名ND和30名NN)的珠蛋白链进行了反相高效液相色谱(RP-HPLC)分析。发现α/β比值与α-珠蛋白基因数量之间存在高度显著的线性回归(r2 = 0.967),α/β比值平均范围从NN个体的1.0到ND个体的1.2以及DD受试者的1.6。血液值在正常范围内,但总体上相当特殊。当将携带正常排列的个体的红细胞与具有额外α基因的受试者的红细胞进行比较时,后者的红细胞数量较少,尺寸较大,血红蛋白含量较高且渗透脆性较大。这种血液学情况与α/β比值不平衡的存在是一致的。

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