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马生殖疾病的遗传学

Genetics of Equine Reproductive Diseases.

作者信息

Raudsepp Terje

机构信息

Department of Veterinary Integrative Biosciences, Molecular Cytogenetics Laboratory, Texas A&M University, College of Veterinary Medicine and Biomedical Sciences, Veterinary Research Building Room 306, 588 Raymond Stotzer Parkway, College Station, TX 77843-4458, USA.

出版信息

Vet Clin North Am Equine Pract. 2020 Aug;36(2):395-409. doi: 10.1016/j.cveq.2020.03.013. Epub 2020 Jun 10.

Abstract

Reproductive disorders are genetically heterogeneous and complex; available genetic tests are limited to chromosome analysis and 1 susceptibility gene. Cytogenetic analysis should be the first test to confirm or rule out chromosomal aberrations. No causative genes/mutations are known. The only available genetic test for stallion subfertility is based on a susceptibility gene FKBP6. The ongoing progress in equine genomics will improve the status of genetic testing. However, because subfertile phenotypes do not facilitate collection of large numbers of samples or pedigrees, and clinical causes of many cases remain unknown, further progress requires constructive cross-talk between geneticists, clinicians, breeders, and owners.

摘要

生殖障碍在遗传上具有异质性且复杂;现有的基因检测仅限于染色体分析和1个易感基因。细胞遗传学分析应作为确认或排除染色体畸变的首要检测方法。目前尚不清楚致病基因/突变。种公马生育力低下唯一可用的基因检测是基于易感基因FKBP6。马基因组学的不断进展将改善基因检测的状况。然而,由于生育力低下的表型不利于收集大量样本或系谱,而且许多病例的临床病因仍然不明,因此进一步的进展需要遗传学家、临床医生、育种者和马主之间进行建设性的交流。

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