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牛中朊病毒蛋白八肽重复序列等位基因的异常分离。

Abnormal segregation of prion protein octapeptide-repeat alleles in cattle.

作者信息

Walawski Krzysztof, Czarnik Urszula, Wojciechowski Robert, Pareek Chandra S

机构信息

Department of Animal Genetics, University of Warmia and Mazury in Olsztyn, ul. M. Oczapowskiego 5, 10-824 Olsztyn, Poland.

出版信息

J Appl Genet. 2003;44(3):375-8.

PMID:12923312
Abstract

The study was conducted on full-families of Black-and-White cattle obtained as 25 AI sire families and 355 cows, as well as their progenies, mostly heifers at the age of 1-3 months. The sire group was composed by the casual qualification of 10 PRNP 6/6 and 15 PRNP 6/5 individuals on the basis of accessible young progenies. The randomly selected group of cows is characterised by a very high frequency of PRNP 6/6 (74.9%), followed by lower frequency of PRNP 6/5 (24.5%) and a very low frequency of PRNP 5/5 genotype (0.6%). The progenies represent all expected genotypes, such as: PRNP 6/6 (60.5%), PRNP 6/5 (35.8%) and PRNP 5/5 (3.7%), respectively. Taking into consideration the genotypes of parents and progenies, the segregation of PRNP 6 and PRNP 5 alleles was analysed. Results of the non-informative mating variant of male symbol PRNP 6/6 x female symbol PRNP 6/6 (n = 87) are affected by the PRNP 6/6 progeny genotype in all cases. Subsequently, the results of mating variants male symbol PRNP 6/6 x female symbol PRNP 6/5 (n = 29) and male symbol PRNP 6/5 female symbol PRNP 6/6 (n = 179) showed statistically non-significant differences in both above-mentioned alternations. The progeny group related from male symbol PRNP 6/5 x female symbol PRNP 6/5 parental mating obtained fully informative and most valuable results based on the presented research concept. In the common group of 58 calves, the genotype PRNP 6/6 is represented by 26 individuals (44.8%), PRNP 6/5 - by 19 individuals (32.8%) and PRNP 5/5 - by 13 individuals (22.4%). Therefore, the theoretical genotype rate (25% : 50% : 25%) is drastically deformed and the differentiation between the observed and expected numbers of animals is statistically highly significant (chi(2) = 12.72; 2 df.). These differences are affected by two times higher PRNP 6/6 homozygous (chi(2) = 9.12; 1 df.) and responsively by the low number of PRNP 6/5 heterozygous animals (chi(2) = 3.45; 1 df.). Further investigations are carried out to explain the genetic determination of abnormal PRNP octa-peptide repeat allele segregation, which suggests possible lethal cis-trans linkage effects.

摘要

该研究以黑白花奶牛的全家族为对象,这些家族由25个人工授精父系家族和355头母牛及其后代组成,后代大多为1 - 3月龄的小母牛。父系组是根据可获取的年轻后代,随机挑选10头PRNP 6/6和15头PRNP 6/5个体组成。随机挑选的母牛组的特点是PRNP 6/6频率非常高(74.9%),其次是PRNP 6/5频率较低(24.5%),PRNP 5/5基因型频率极低(0.6%)。后代呈现出所有预期的基因型,分别为:PRNP 6/6(60.5%)、PRNP 6/5(35.8%)和PRNP 5/5(3.7%)。考虑到亲本和后代的基因型,分析了PRNP 6和PRNP 5等位基因的分离情况。雄性符号PRNP 6/6×雌性符号PRNP 6/6(n = 87)的非信息性交配变体结果在所有情况下均受PRNP 6/6后代基因型影响。随后,雄性符号PRNP 6/6×雌性符号PRNP 6/5(n = 29)和雄性符号PRNP 6/5×雌性符号PRNP 6/6(n = 179)的交配变体结果在上述两种交配中显示出统计学上无显著差异。基于所提出的研究概念,来自雄性符号PRNP 6/5×雌性符号PRNP 6/5亲本交配的后代组获得了完全信息且最有价值的结果。在58头小牛的共同组中,基因型PRNP 6/6由26头个体(44.8%)代表,PRNP 6/5由19头个体(32.8%)代表,PRNP 5/5由13头个体(22.4%)代表。因此,理论基因型比率(25% : 50% : 25%)严重变形,观察到的动物数量与预期数量之间的差异在统计学上高度显著(卡方 = 12.72;自由度为2)。这些差异受PRNP 6/6纯合子数量高出两倍(卡方 = 9.12;自由度为1)的影响,相应地受PRNP 6/5杂合动物数量较少(卡方 = 3.45;自由度为1)的影响。正在进行进一步研究以解释PRNP八肽重复等位基因异常分离的遗传决定因素,这表明可能存在致死性顺反连锁效应。

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引用本文的文献

1
Prion protein gene (PRNP) variants and evidence for strong purifying selection in functionally important regions of bovine exon 3.朊病毒蛋白基因(PRNP)变体以及牛外显子3功能重要区域存在强烈纯化选择的证据。
Proc Natl Acad Sci U S A. 2004 Oct 19;101(42):15142-7. doi: 10.1073/pnas.0406403101. Epub 2004 Oct 11.