Abstract：
BACKGROUND: Chromosomal abnormalities occur in the equine population at a rate of approximately 2%. The use of molecular cytogenetic techniques allows a more accurate identification of chromosomal abnormalities, especially those with a low rate of abnormal metaphases, demonstrating that the actual incidence in equine populations is higher.
OBJECTIVE: Estimation of the number of carriers of karyotypic abnormalities in a sample from a population of young horses of various breeds, using molecular cytogenetic techniques.
METHODS: Cross-sectional.
METHODS: Venous blood samples were collected from 500 young horses representing 5 breeds (Purebred Arabian, Hucul, Polish primitive horse [Konik], Małopolska, Coldblood, Silesian). Chromosomes and DNA were obtained from blood lymphocytes and evaluated by fluorescence in situ hybridisation (FISH) and PCR, using probes and markers for the sex chromosomes and select autosomes.
RESULTS: Nineteen horses, 18 mares and 1 stallion, were diagnosed with different chromosomal abnormalities: 17 cases of mosaic forms of sex chromosome aneuploidies with a very low incidence (0.6%-4.7%), one case of a SRY-negative 64,XY sex reversal mare, and one mare with X-autosome translocation. The percentage of sex chromosomal aberrations was established as 3.8% in the whole population, 6.08% in females and 0.49% in males.
CONCLUSIONS: Limited sample size, confined to horses from Poland.
CONCLUSIONS: The rate of sex chromosomal abnormalities we identified was almost double that reported in previous population studies that used classical chromosome staining techniques. FISH allowed the detection of aneuploid cell lines which had a very low incidence. The FISH technique is a faster and more precise method for karyotype examination; however, it is usually focused on only one or two chromosomes while banding karyotyping includes the entire chromosome set.
OBJECTIVE: Estimation of the number of carriers of karyotypic abnormalities in a sample from a population of young horses of various breeds, using molecular cytogenetic techniques.
METHODS: Cross-sectional.
METHODS: Venous blood samples were collected from 500 young horses representing 5 breeds (Purebred Arabian, Hucul, Polish primitive horse [Konik], Małopolska, Coldblood, Silesian). Chromosomes and DNA were obtained from blood lymphocytes and evaluated by fluorescence in situ hybridisation (FISH) and PCR, using probes and markers for the sex chromosomes and select autosomes.
RESULTS: Nineteen horses, 18 mares and 1 stallion, were diagnosed with different chromosomal abnormalities: 17 cases of mosaic forms of sex chromosome aneuploidies with a very low incidence (0.6%-4.7%), one case of a SRY-negative 64,XY sex reversal mare, and one mare with X-autosome translocation. The percentage of sex chromosomal aberrations was established as 3.8% in the whole population, 6.08% in females and 0.49% in males.
CONCLUSIONS: Limited sample size, confined to horses from Poland.
CONCLUSIONS: The rate of sex chromosomal abnormalities we identified was almost double that reported in previous population studies that used classical chromosome staining techniques. FISH allowed the detection of aneuploid cell lines which had a very low incidence. The FISH technique is a faster and more precise method for karyotype examination; however, it is usually focused on only one or two chromosomes while banding karyotyping includes the entire chromosome set.
摘要：
背景：染色体异常在马群体中以约2％的比率发生。使用分子细胞遗传学技术可以更准确地识别染色体异常，尤其是那些异常中期比率低的人，证明在马群中的实际发病率较高。
目的：从不同品种的幼马群体中估计样本中核型异常携带者的数量，使用分子细胞遗传学技术。
方法：横断面。
方法：从代表5个品种的500匹幼马中收集静脉血样（纯种阿拉伯，Hucul,波兰原始马[Konik]，Maswopolska,冷血,西里西亚）。从血液淋巴细胞中获得染色体和DNA，并通过荧光原位杂交（FISH）和PCR进行评估，使用性染色体的探针和标记并选择常染色体。
结果：19匹马，18匹母马和1匹种马，被诊断为不同的染色体异常：17例性染色体非整倍体的镶嵌形式，发病率非常低（0.6％-4.7％），一例SRY阴性64，XY性别逆转母马，还有一匹X-autosome易位的母马.在整个人群中，性别染色体畸变的百分比确定为3.8％，女性为6.08%，男性为0.49%。
结论：样本量有限，仅限于来自波兰的马。
结论：我们发现的性染色体异常率几乎是以前使用经典染色体染色技术的人群研究报告的两倍。FISH允许检测发生率非常低的非整倍体细胞系。FISH技术是一种更快速、更精确的核型检查方法；然而，它通常只关注一个或两个染色体，而条带核型分析包括整个染色体组。
目的：从不同品种的幼马群体中估计样本中核型异常携带者的数量，使用分子细胞遗传学技术。
方法：横断面。
方法：从代表5个品种的500匹幼马中收集静脉血样（纯种阿拉伯，Hucul,波兰原始马[Konik]，Maswopolska,冷血,西里西亚）。从血液淋巴细胞中获得染色体和DNA，并通过荧光原位杂交（FISH）和PCR进行评估，使用性染色体的探针和标记并选择常染色体。
结果：19匹马，18匹母马和1匹种马，被诊断为不同的染色体异常：17例性染色体非整倍体的镶嵌形式，发病率非常低（0.6％-4.7％），一例SRY阴性64，XY性别逆转母马，还有一匹X-autosome易位的母马.在整个人群中，性别染色体畸变的百分比确定为3.8％，女性为6.08%，男性为0.49%。
结论：样本量有限，仅限于来自波兰的马。
结论：我们发现的性染色体异常率几乎是以前使用经典染色体染色技术的人群研究报告的两倍。FISH允许检测发生率非常低的非整倍体细胞系。FISH技术是一种更快速、更精确的核型检查方法；然而，它通常只关注一个或两个染色体，而条带核型分析包括整个染色体组。
