Bergersen O, Fosse V M, Nesse L L
Department of Animal Genetics, Norwegian College of Veterinary Medicine/National Veterinary Institute, Oslo.
Anim Genet. 1991;22(1):77-86. doi: 10.1111/j.1365-2052.1991.tb00648.x.
Fast protein liquid chromatography (FPLC) and polyacrylamide gel electrophoresis were used to determine the ratio between I alpha- and II alpha-globin chains in Norwegian dairy goats. Three different phenotypes, designated normal (N) with I alpha- to II alpha-globin ratio 3:1, reversed (R) with ratio 1:2 and double-reversed (RR) with no I alpha-globin, were described. Family studies indicated that the R animals were heterozygous, and the RR animal homozygous, for a haplotype without a functional I alpha-globin product. Southern blot analysis of goat DNAs digested with six different restriction enzymes showed that the different ratios of alpha chain expression could not be due to a deletion of the I alpha-gene and/or duplication or triplication of the II alpha-globin genes. The homozygous reversed animal with no detectable I alpha-globin had a mild anaemia.
采用快速蛋白质液相色谱法(FPLC)和聚丙烯酰胺凝胶电泳法测定挪威奶山羊中Iα-和IIα-珠蛋白链的比例。描述了三种不同的表型,分别为正常型(N),其Iα-与IIα-珠蛋白比例为3:1;反转型(R),比例为1:2;双反转型(RR),无Iα-珠蛋白。家系研究表明,R型动物是无功能性Iα-珠蛋白产物单倍型的杂合子,RR型动物是纯合子。用六种不同限制性内切酶消化山羊DNA的Southern印迹分析表明,α链表达的不同比例并非由于Iα-基因缺失和/或IIα-珠蛋白基因的重复或三倍化所致。未检测到Iα-珠蛋白的纯合反转型动物有轻度贫血。