Maxwell H. Gluck Equine Research Center, University of Kentucky, Lexington, KY 40546, USA. equigene @ uky.edu
Sex Dev. 2012;6(1-3):61-71. doi: 10.1159/000334048. Epub 2011 Nov 17.
Abnormalities of sexual development causing infertility in horses have been investigated since the early 1970's. Conventional cytogenetic analysis by karyotyping has been the primary tool used to investigate these horses. Abnormalities have a broad range, from a phenotypically normal mare with gonadal dysgenesis to a horse with ambiguous external genitalia and internal male and female organs. Cytogenetic analysis can determine genetic sex but cannot identify mutations or deletions of genes involved in the sex determination pathway. Molecular technologies have been developed to confirm cytogenetic results and to aid in identifying the genetic causes of abnormal sex determination in horses. In this paper, we review the historical development of methods used to understand abnormal sexual development in the horse as well as summarize cases reported over the last 40-50 years.
自 20 世纪 70 年代初以来，人们一直在研究导致马不孕的性发育异常。传统的细胞遗传学分析通过核型分析一直是用于研究这些马的主要工具。异常范围广泛，从表型正常的性腺发育不良母马到具有内外生殖器两性畸形的马。细胞遗传学分析可以确定遗传性别，但不能识别性决定途径中涉及的基因突变或缺失。已经开发了分子技术来确认细胞遗传学结果，并帮助确定马异常性别决定的遗传原因。在本文中，我们回顾了过去 40-50 年来用于了解马的性发育异常的方法的历史发展，并总结了报告的病例。
