Genetic diagnosis of sex chromosome aberrations in horses based on parentage test by microsatellite DNA and analysis of X- and Y-linked markers
Genetic diagnosis of sex chromosome aberrations in horses based on parentage test by microsatellite DNA and analysis of X- and Y-linked markers
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DOI：
10.2746/0425164054223787
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发表时间：
2005-03-01
影响因子：
2.2
通讯作者：
Kuwajima, M
中科院分区：
文献类型：
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作者：
Kakoi, H;Hirota, K;Kuwajima, M
进行研究的原因：性染色体畸变通常与影响马健康和繁殖的临床症状有关。然而，性染色体畸变的异常表现通常出现在成熟时，并且很少怀疑潜在的疾病。因此，需要在早期阶段进行可靠的调查。 目的：通过亲子鉴定和 X 和 Y 连锁标记分析来检测和表征新生马驹的性染色体畸变。方法：我们对新生轻种马驹 (n = 17, 471) 进行了微卫星 DNA 亲子鉴定和 X 和 Y 连锁遗传标记分析相结合的遗传诊断。马性染色体畸变的最低发生率是根据现有群体数据估计的。结果：发现 18 例畸变病例，涉及 63,XO、65,XXY 和 65,XXX。仅基于对单个 X 染色体标记 LEX003 异常分离的检测，就分别在马群中发现了 XO、XXY（纯 65、XXY 和/或嵌合体/嵌合体）和 XXX，分别为 0.15%、0.02% 和 0.01%。结论和潜在相关性：早期检测和了解性染色体畸变的患病率应有助于马匹繁殖的诊断和管理。此外，每种疾病的X染色体的亲本起源可以通过遗传分析的结果来证明，从而有助于细胞遗传学表征。
Reasons for performing, study: Sex chromosome aberrations are often associated with clinical signs that affect equine health and reproduction. However, abnormal manifestation with sex chromosome aberration usually appears at maturity and potential disorders may be suspected infrequently. A reliable survey at an early stage is therefore required.Objectives: To detect and characterise sex chromosome aberrations in newborn foals by the parentage test and analysis using X- and Y-linked markers.Methods: We conducted a genetic diagnosis combined with a parentage test by microsatellite DNA and analysis of X- and Y-linked genetic markers in newborn light-breed foals (n = 17, 471). The minimum incidence of sex chromosome aberration in horses was estimated in the context of available population data.Results: Eighteen cases with aberrations involving 63,XO, 65,XXY and 65,XXX were found. The XO, XXY (pure 65,XXY and/or mosaics/chimaeras) and XXX were found in 0.15, 0.02 and 0.01% of the population, respectively, based solely on detection of abnormal segregation of a single X chromosome marker, LEX003.Conclusions and potential relevance: Detection at an early age and understanding of the prevalence of sex chromosome aberrations should assist in the diagnosis and managment of horses kept for breeding. Further, the parental origin of the X chromosome of each disorder could be proved by the results of genetic analysis, thereby contributing to cytogenetic characterisation.