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通过反相高效液相色谱法研究猫β-珠蛋白的多态性。

Polymorphism of feline beta-globins studied by reversed-phase high-performance liquid chromatography.

作者信息

Kohn B, Reilly M P, Asakura T, Giger U

机构信息

Section of Medical Genetics, School of Veterinary Medicine, University of Pennsylvania, Philadelphia 19104-6010, USA.

出版信息

Am J Vet Res. 1998 Jul;59(7):830-5.

PMID:9659546
Abstract

OBJECTIVE

To characterize the feline beta-globin system with respect to the number and genetics of adult beta-globin chains.

ANIMALS

84 domestic and purebred cats (9 breeds), 14 cats were mildly to severely anemic. For genetic analyses, 12 litters with 1 to 5 offspring for a total of 29 kittens.

PROCEDURE

Feline globins from erythrocyte lysates were separated by reversed-phase high-performance liquid chromatography and analyzed on the basis of retention time and area of each beta-globin peak. Mixing studies with half the amount of hemoglobin (Hb) from 2 cats were performed to assign the beta-globin peaks in each cat. The Hb from 60 cats were also separated by standard isoelectric focusing methods.

RESULTS

Heme and alpha- and beta-globins were effectively separated by high-performance liquid chromatography. Although there was only 1 alpha-globin, a total of 6 beta-globins (I through VI) were identified, with each cat having 1 to 4 beta-globin chains. From analysis of the number of beta-globins, their relative amounts, and Hb mixing studies, 17 beta-globin patterns were observed. The beta-globin pattern in healthy and anemic cats was identical. Family studies documented an autosomal codominant mode of inheritance of the adult beta-globins and a linkage of 2 beta-chains forming haplotypes.

CONCLUSIONS

Biochemical and genetic evidence for the greatest polymorphism of adult beta-globins thus far described in any species is provided. A feline beta-globin gene region with 2 linked beta-globin gene loci and 2 and 5 alleles is proposed.

CLINICAL RELEVANCE

Better understanding of feline Hb will likely be helpful for diagnosis of hemoglobinopathies in anemic cats.

摘要

目的

从成年β-珠蛋白链的数量和遗传学方面对猫β-珠蛋白系统进行特征描述。

动物

84只家养和纯种猫(9个品种),14只猫患有轻度至重度贫血。用于遗传分析的有12窝,每窝有1至5只后代,共29只小猫。

步骤

通过反相高效液相色谱法分离红细胞裂解物中的猫珠蛋白,并根据每个β-珠蛋白峰的保留时间和面积进行分析。对来自2只猫的一半血红蛋白(Hb)进行混合研究,以确定每只猫中的β-珠蛋白峰。60只猫的Hb也通过标准等电聚焦方法进行分离。

结果

通过高效液相色谱法可有效分离血红素、α-珠蛋白和β-珠蛋白。虽然只有1种α-珠蛋白,但共鉴定出6种β-珠蛋白(I至VI),每只猫有1至4条β-珠蛋白链。通过对β-珠蛋白数量、相对含量以及Hb混合研究的分析,观察到17种β-珠蛋白模式。健康猫和贫血猫的β-珠蛋白模式相同。家系研究证明成年β-珠蛋白的遗传方式为常染色体共显性,且2条β链形成单倍型存在连锁关系。

结论

提供了迄今在任何物种中所描述的成年β-珠蛋白最大多态性的生化和遗传学证据。提出了一个具有2个连锁β-珠蛋白基因位点以及2个和5个等位基因的猫β-珠蛋白基因区域。

临床意义

更好地了解猫Hb可能有助于诊断贫血猫的血红蛋白病。

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