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34,XY1,der(13) 染色体组成伴 Y 丢失 2 与濒危印度黑羚(Antilope cervicapra)单侧睾丸发育不全有关。

The 34,XY1,der(13) chromosome constitution with loss of Y2 is associated with unilateral testicular hypoplasia in the endangered Indian blackbuck antelope (Antilope cervicapra).

机构信息

Laboratory for the Conservation of Endangered Species Annexe I and Chromosome Diagnostics Facility, Clinical Research Facility-Medical Biotechnology Annexe II, Centre for Cellular and Molecular Biology (CSIR), Hyderabad, India.

出版信息

Sex Dev. 2012;6(5):240-6. doi: 10.1159/000339898. Epub 2012 Jul 26.

Abstract

The present study is the first report of unilateral testicular hypoplasia in 3 of 15 (20%) Indian blackbuck antelopes (Antilope cervicapra). Interestingly, the condition was restricted to only the right testis in all cases. Cytogenetic analysis revealed chromosomal aneuploidy in the affected individuals which had a 34,XY(1),der(13) karyotype with loss of the acrocentric (autosomal) Y(2) and an aberrant chromosome 13. We further determined that the semen output and the circulating testosterone levels were markedly low in the males with hypoplastic testes as compared to fertile males.

摘要

本研究首次报道了在 15 只印度黑羚(Antilope cervicapra)中有 3 只(20%)出现单侧睾丸发育不全。有趣的是,在所有病例中,这种情况仅局限于右侧睾丸。细胞遗传学分析显示,受影响个体存在染色体非整倍体,其核型为 34,XY(1),der(13),丢失了近端着丝粒(常染色体)Y(2)和一条异常的 13 号染色体。我们进一步发现,与正常生育力的雄性相比,睾丸发育不全的雄性的精液输出量和循环睾酮水平明显较低。

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