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一头携带新型Y-常染色体易位的公猪的无精子症和睾丸发育不全

Azoospermia and Testicular Hypoplasia in a Boar Carrier of a Novel Y-Autosome Translocation.

作者信息

Villagómez Daniel A F, Revay Tamas, Donaldson Brendan, Rezaei Samira, Pinton Alain, Palomino Manuel, Junaidi Awang, Honaramooz Ali, King W Allan

机构信息

Department of Biomedical Sciences, University of Guelph, Guelph, ON, Canada.

出版信息

Sex Dev. 2017;11(1):46-51. doi: 10.1159/000453298. Epub 2016 Dec 15.

DOI:10.1159/000453298
PMID:27974725
Abstract

Few sex-autosome chromosome abnormalities have been documented in domestic animal species. In humans, Y-autosome chromosome abnormalities may occur at a rate of 1/2,000 live births, whereas in the domestic pig only 2 Y-autosome reciprocal translocations have been previously described. During a routine cytogenetic screening of young boars, we identified a new Y-autosome translocation carrier, which after puberty showed semen devoid of sperm and testicular hypoplasia with spermatogenesis arrest. Whole chromosome painting by FISH analysis corroborated the reciprocal nature of the chromosomal exchanges between the Y chromosome and SSC13. The possible causes for the observed meiotic arrest of the carrier are reviewed.

摘要

在家畜物种中,很少有性染色体与常染色体异常的记录。在人类中,Y染色体与常染色体异常的发生率约为1/2000活产儿,而在家猪中,此前仅描述过2例Y染色体与常染色体的相互易位。在对公猪进行的常规细胞遗传学筛查中,我们鉴定出了一头新的Y染色体与常染色体易位携带者,该携带者在青春期后精液中无精子,睾丸发育不全且精子发生停滞。通过荧光原位杂交(FISH)分析进行的全染色体涂染证实了Y染色体与13号常染色体之间染色体交换的相互性质。本文对观察到的携带者减数分裂停滞的可能原因进行了综述。

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