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伴有全身性皮下水肿的先天性骨软骨发育不良(ocd/ocd):大鼠的一种新的致死性常染色体隐性突变体。

Congenital osteochondrodysplasia with systemic subcutaneous edema (ocd/ocd): a new lethal autosomal recessive mutant of the rat.

作者信息

Suzuki K, Kikukawa K, Hakamata Y, Kamei T, Imamichi T

机构信息

Department of Veterinary Physiology, Nippon Veterinary and Zootechnical College, Tokyo, Japan.

出版信息

J Hered. 1988 Jan-Feb;79(1):48-50. doi: 10.1093/oxfordjournals.jhered.a110445.

DOI:10.1093/oxfordjournals.jhered.a110445
PMID:3367036
Abstract

The inheritance of a new lethal mutant rate showing congenital osteochondrodysplasia with systemic subcutaneous edema (ocd for the gene symbol) was examined by crossings between the carriers and between F1s derived from the carrier x Long-Evans crossing. The ratio of the affected to phenotypically normal was 276:89 in pups derived from the crossings between the carriers and 83:17 in those at the LE-F2 generation derived from the proven carriers of the LE-F1 animals, thus showing that the ratio is 3:1. The female:male ratio was 47:42 in the affected and 133:143 in the phenotypically normal pups, showing the sex ratio is 1:1, irrespective of the affected or phenotypically normal. The ratio of affected:carrier:noncarrier was 26:58:27 in littermates derived from the crossings between the carriers, showing the ratio is 1:2:1. The results fitted well to the hypothesis that the inheritance is a single autosomal recessive trait. Independence of the gene from linkage group I was also revealed, because the ratio of colored to albino was 14:3 and 65:18 in affected and phenotypically normal pups at the LE-F2 generation, respectively, which fitted to the ratio of 3:1.

摘要

通过携带突变基因的个体之间以及携带突变基因的个体与长-伊文斯大鼠杂交产生的F1代之间的杂交,研究了一种新的致死突变率的遗传情况,该突变表现为先天性骨软骨发育不良并伴有全身性皮下水肿(基因符号为ocd)。在携带突变基因的个体之间杂交所产生的幼崽中,患病个体与表型正常个体的比例为276:89,在源自LE-F1动物的经证实的携带者的LE-F2代中,该比例为83:17,表明该比例为3:1。在患病幼崽中,雌性:雄性比例为47:42,在表型正常的幼崽中为133:143,表明无论患病与否,性别比例均为1:1。在携带突变基因的个体之间杂交所产生的同窝幼崽中,患病:携带者:非携带者的比例为26:58:27,表明该比例为1:2:1。这些结果与该遗传是单一常染色体隐性性状的假设非常吻合。还揭示了该基因与连锁群I无关,因为在LE-F2代中,患病幼崽和表型正常幼崽中有色与白化的比例分别为14:3和65:18,符合3:1的比例。

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