一头意大利地中海河水牛（水牛属，2n = 50）公牛中发现的一种新的易位t(1p;18)：细胞遗传学、生育力及遗传研究

A new translocation t(1p;18) in an Italian Mediterranean river buffalo (Bubalus bubalis, 2n = 50) bull: cytogenetic, fertility and inheritance studies.

作者信息

Albarella S, Ciotola F, Coletta A, Genualdo V, Iannuzzi L, Peretti V

机构信息

Department of Animal Science and Food Inspection, University Federico II, Naples, Italy.

出版信息

Cytogenet Genome Res. 2013;139(1):17-21. doi: 10.1159/000342360. Epub 2012 Sep 12.

DOI:10.1159/000342360

PMID:22986410

Abstract

In recent years increasing attention has been paid to the cytogenetic control of Italian Mediterranean river buffalo (BBU) bulls authorized as sires which are registered in the stud book. Chromosome abnormalities described in this species are mainly numerical and affecting sex chromosomes. During routine cytogenetic analyses performed on young Italian Mediterranean river buffalo bulls in the progeny test, 1 animal was found to be carrier of a never before reported translocation t(1p;18) originated by fission of BBU1 and subsequent centric fusion of BBU1p with BBU18 as demonstrated by both R-banding and FISH-mapping techniques using specific molecular markers of BBU1p (DEFB1) and BBU18 (GPI). According to sperm analyses the semen characteristics were in physiological ranges, but the calf crop percentage was only 48.77% instead of 70-80%. Cytogenetic analyses performed on 50 offspring (36 females and 14 males) showed that 15 of them (30%) were carriers of the same translocation.

摘要

近年来，意大利地中海河水牛（BBU）种公牛的细胞遗传学控制受到越来越多的关注，这些种公牛被授权作为种畜登记在种畜登记簿中。该物种中描述的染色体异常主要是数目异常，且影响性染色体。在对后代测试中的年轻意大利地中海河水牛种公牛进行常规细胞遗传学分析时，发现1头动物携带一种此前从未报道过的易位t(1p;18)，该易位由BBU1的分裂以及BBU1p与BBU18的着丝粒融合产生，这通过使用BBU1p（DEFB1）和BBU18（GPI）的特异性分子标记的R带和荧光原位杂交（FISH）映射技术得以证实。根据精子分析，精液特征处于生理范围内，但犊牛出生率仅为48.77%，而非70 - 80%。对50只后代（36只雌性和14只雄性）进行的细胞遗传学分析表明，其中15只（30%）是相同易位的携带者。