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1.
The aim of our study was to diagnose aneuploidy in equine spermatozoa by multicolour fluorescence in situ hybridization (FISH) technique using specific molecular probes for equine sex chromosomes and autosome pair four (EGFR probe) labeled by different fluorochromes. These were applied on decondensed spermatozoa of four stallions. In total, more than 8800 sperm cells were examined. The total frequency of aberrant cells was 0.496%: aneuploidy of XX (0.135%), YY (0.023%), XY (0.102%), diploidy (0.057%), lack of sex chromosome (0.18%). In one stallion the ratio of normal X‐ and Y‐bearing cells was different from the expected 1 : 1 ratio (p = 0.0002), in all three other stallions this ratio was close to 1 : 1. The present study demonstrated that the FISH technique is a powerful method to identify sex chromosome aberrations in equine spermatozoa and allows for the determination of the ratio between X–Y‐spermatozoa.  相似文献   

2.
The Sorraia, a critically endangered indigenous Iberian horse breed, is characterized by low genetic variability, high rate of inbreeding, bad sperm quality and subfertility. Here, we studied 11 phenotypically normal but subfertile Sorraia stallions by karyotyping, sex chromosome sperm‐FISH and molecular analysis of FKBP6 – a susceptibility locus for impaired acrosome reaction (IAR). The stallions had normal sperm concentration (>300 million cells/ml), but the numbers of progressively motile sperm (21%) and morphologically normal sperm (28%) were invariably low. All stallions had a normal 64,XY karyotype. The majority of sperm (89%) had normal haploid sex chromosome content, although 11% of sperm carried various sex chromosome aneuploidies. No correlation was found between the percentage of sperm sex chromosome abnormalities and inbreeding, sperm morphology or stallion age. Direct sequencing of FKBP6 exon 4 for SNPs g.11040315G>A and g.11040379C>A revealed that none of the stallions had the susceptibility genotype (A/A‐A/A) for IAR. Instead, all animals had a G/G‐A/A genotype – a testimony of low genetic variability. The findings ruled out chromosomal abnormalities and genetic predisposition for IAR as contributing factors for subfertility. However, low fertility of the Sorraia stallions could be partly attributed to relatively higher rate of sex chromosome aneuploidies in the sperm.  相似文献   

3.
The objective of the present study was to evaluate the effect of breed of stallion and individual stallion on secondary sex ratio (SSR; the proportion of male foals at birth). Data associated with the sex of foals and the sire, as well as the breed and age of sire were retrieved from the database of the Equestrian Federation of the Islamic Republic of Iran. In total, data consisted of 4,491 birth records from 92 stallions. Stallions were from three breeds of Arabian, Thoroughbred, and Akhal-Teke. Data were analyzed using univariable and multivariable logistic regression. Proportion of colts was 63.0% (427/678), 46.1% (1,545/3,355), and 53.9% (247/458) in Arabian, Thoroughbred, and Akhal-Teke stallions, respectively. In Arabian stallions, SSR was skewed toward males (P < .0001; odds ratio, 1.701), whereas in Thoroughbred stallions, it was skewed toward females (P = .001; odds ratio, 0.853). Secondary sex ratio was not skewed in Akhal-Teke stallions (P > .05). Secondary sex ratio in Thoroughbred stallions was lower than that in Arabian (P < .0001; adjusted odds ratio, 1.983) and Akhal-Teke (P = .010; adjusted odds ratio, 1.527) stallions, but SSR did not differ between Arabian and Akhal-Teke stallions (P > .05). There was the effect of individual stallion on SSR in Arabian and Thoroughbred breeds (P < .0001) but not in Akhal-Teke breed (P > .05). In conclusion, the present study showed the effect of breed of stallion and stallion itself on sex ratio of foals.  相似文献   

4.
Tortoiseshell colored tomcats are very uncommon. In most cases their phenotype is caused by an aberration of sex chromosomes. In this study, we carried out cytogenetic investigations in four tortoiseshell tomacats. In two cases, an XXY syndrome could be proven. Another tortoiseshell tomcat had an XX/XY chromosomal constitution. One tomcat showed an exclusively male XY karyotype. In two cases the testes were histologically examined. In one XXY phenotypically male cat there was no spermatogenesis present. In the tomcat with XX/XY-chimerism spermatogenesis was seen in some testicular tubules.  相似文献   

5.
A questionnaire concerning the coat colour and sex of cats being vaccinated or neutered was sent to 2585 veterinary practices; 393 (15.2 per cent) were returned and information was obtained about 9816 cats. Of 4598 males, 20 were recorded as tortoiseshell (0.43 per cent). The frequency of the orange gene was 19.7 per cent assuming that male tortoiseshell cats had two X chromosomes. The chromosome complement and/or gonadal histology of 14 male tortoiseshell cats is described. Cytogenetic analysis of 11 animals revealed six with a 38,XX/38,XY complement, two with 39,XXY, two with 38,XX, and one with a 38,XY complement.  相似文献   

6.
采用常规细胞遗传学分析手段,对青海省西宁动物园饲养的马鹿染色体核型进行分析,结果:马鹿染色体数目为2n=68,染色体臂数NF=70(♀)、71();常染色体类型为2条中(M)着丝粒,64条近端或端(A)着丝粒;性染色体类型X为近端(A),Y为近中(sM)着丝粒;公母鹿核型式为68,XY和68XX。  相似文献   

7.
Contents: Blood samples were collected from 50 normal male and female goats belonging to five Egyptian breeds, and also from 22 sterile females. Leukocyte cultures were set up and chromosomal preparations were made. The karyotype of the goats examined was identical with that reported in the literature for foreign breeds, consisting of 58 acrocentric autosomes, a large, acro centric X and a small, metacentric Y chromosome. All acrocentric chromosomes had well defined C-bands, while the Y chromosome was uniformly dark. Chromosomal aberrations were infrequent in the normal animals, except in one male which had a high rate of polyploidy. There were no significant differences in cytological aberrations between breeds and sexes, except for polyploidy, which was caused by the one aberrant male with high polyploidy. The 22 sterile females were composed of 14 individuals which displayed XX/XY mosaicism and eight animals with only XX leukocytes. Among the 14 mosaics, 10 animals were intersexes, one displayed blind halves of the udder, and three were morphologically normal females. The eight sterile XX females were morphologically normal. Chromosomal aberrations were higher in sterile females than in fertile females. Sterile XX females had more aberrations than XX/XY mosaics. The aberrations consisted of chromatid breaks, centric fusion, chromosome and chromatid gaps and peridiploidy, in that order of significance. Concluding, the present study adds evidence for a link between sterility and chromosomal aberration. The high incidence of intersexuality associated with XX/XY mosaicism in polled goats warrants further study. Inhalt: ZTtogenetische Studien an fünf ägyptischen Ziegenrassen Von 50 normalen Ziegen fünf ägyptischer Rassen und von 22 unfruchtbaren Tieren wurden Blutproben gewonnen und Leukozytenkulturen und Chromosompräparationen angefertigt. Der untersuchte Karyotyp der Ziegen entsprach dem in der Literatur von ausländischen Rassen berichteten und besteht aus 58 akrozentrischen Autosomen, einem groβen akrozentrischen X- und einem kleinen metazentrischen Y-Chromosom. Alle akroxentrischen Chromosomen haben klar definierte C-Bänderung, während das Y-Chromosom einheitlich dunkel ist. Chromosomale Abweichungen sind in normalen Tieren selten, nur ein Bock hatte eine hohe Polyploidierate. Signifikante Unterschiede in zytologischen Abweichungen konnten zwischen Rassen und Geschlechtem nicht festgestellt werden, mit Ausnahme der Polyploidie des genannten Bockes. Unter 22 sterilen Ziegen waren 14 mit XX/XY-Mosaik und 8 XX-Tiere. Unter den 14 Mosaiken waren 10 Intersexe, ein Tier hatte eine blinde Euterhälfte und drei waren morphologisch normal. Die 8 unfruchtbaren XX-Ziegen waren morphologisch normal. Chromosomale Aberrationen waren in sterilen Ziegen höher als in fruchtbaren Tieren, die sterilen XX-Ziegen hatten mehr Abweichungen als die Ziegen mit XX/XY-Mosaiken. Die Aberrationen bestanden in Chromatidbrüchen, zentrischen Fusionen, Chromosom- und Chromatidlücken und Peridiploidie, und zwar in dieser Reihenfolge. Zusammenfassend kann festgestellt werden, daß die gegenwärtigen Untersuchungen Hinweise für eine Verbindung zwischen Sterilität und chromosomalen Abweichungen liefert. Die gesteigerte Häufigkeit der Intersexualität in Verbindung mit XX/XY-Mosaiken in hornlosen Ziegen macht weitere Untersuchungen wünschenswert.  相似文献   

8.
Karyotype evaluation among young horse populations in Poland   总被引:1,自引:0,他引:1  
Five hundred young horses of the following breeds: Thoroughbred, Silesian, Malopolska, Wielkopolska, Polish Konik, Hutsul, Shetland Pony, Half-bred Anglo-Arabian, Noble Half-bred, Fjord and crosses were cytogenetically investigated. Chromosome preparations obtained after lymphocyte culture were analysed using conventional Giemsa staining and CBG-banding methods. In the case of abnormalities GTG-banding as well as FISH technique were applied. In ten mares different karyotypic abnormalities were diagnosed. One mare showed chromosome chimerism (64,XX/64,XY), eight had sex chromosomal aneuploidy (one in pure line 63,X and seven in mosaic form 63,X/64,XX) and one presented autosomal aneuploidy with mosaicism (64,XX/65,XX,+31). The influence of sex chromosome abnormalities on fertility and the possible utilisation of karyotypic control in any selection programme are discussed.  相似文献   

9.
The cellular effects of tall fescue grass–associated toxic ergot alkaloids on stallion sperm and colt testicular tissue were evaluated. This was a continuation of an initial experiment where the effects of toxic ergot alkaloids on the stallion spermiogram were investigated. The only spermiogram parameter in exposed stallions that was affected by the toxic ergot alkaloids was a decreased gel‐free volume of the ejaculate. This study examined the effect of toxic ergot alkaloids on chilling and freezing of the stallion sperm cells. The effect of toxic ergot alkaloids on chilled extended sperm cells for 48 h at 5°C was to make the sperm cells less likely to undergo a calcium ionophore–induced acrosome reaction. The toxic ergot alkaloids had no effect on the freezability of sperm cells. However, if yearling colts were fed toxic ergot alkaloids, then the cytological analysis of meiotic chromosome synapsis revealed a significant increase in the proportion of pachytene spermatocytes showing unpaired sex chromosomes compared to control spermatocytes. There was little effect of ergot alkaloids on adult stallions, but there might be a significant effect on yearling colts.  相似文献   

10.
荒漠猫染色体的首次研究   总被引:1,自引:0,他引:1  
采用外周血淋巴细胞培养和常规染色体制备分析技术,对青海省珍稀兽类荒漠猫染色体进行首次研究,结果显示:荒漠猫的染色体数目为2n=38,常染色体形态类型为10M+10sM+12sT+4T(或A),性染色体形态类型X为sM,Y为sT,染色体总臂数NF=72,公母猫核型式为38,XY和38,XX。  相似文献   

11.
采用骨髓法制备经营田鼠染色体标本片,并对其染色体核型和G带进行分析。结果表明,经营田鼠体细胞染色体数为2n=38,雄性染色体核型由18对常染色体和1对异配型性染色体XY组成,雌性为18对常染色体和1对同配型性染色体XX组成。1~9号为端着丝粒(t)染色体(包括Y染色体),10号为近端着丝粒(st)染色体,11~18号为中央着丝粒(m)染色体(包括X色体)。19对染色体共分布有370条G带(雄性365条),其中深带190条,浅带180条。因此,经营田鼠的染色体数目、G带具有明显种的特征,与其他鼠类不同。  相似文献   

12.
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.  相似文献   

13.
A 19-month-old Standardbred colt was donated to the University of Pennsylvania School of Veterinary Medicine with a suspicion of intersexuality. The anal−genital distance and penis were normal, and there was no evidence of intersexuality, but the colt was bilaterally cryptorchid. Several aspects of the colt's behavior appeared unusual, including general temperament and behavior described as sympathetically dull and affable. With herd mates, the colt appeared slow to perceive or to learn the usual intraspecies social cues. An atypical gait characterized by intermittent unnatural shuffle of the hind limbs, sliding them along in short rhythmic strides for 3 to 10 seconds at a time was noted at times when a horse might normally transition from a slow walk to a fast walk or a slow trot. Occasionally the colt exhibited slight protrusion of the tongue through the teeth and lips with jaw movements and smacking of the tongue against the teeth as if struggling to retract the tongue to the normal position. Evaluation of the karyotype combined with fluorescent in situ hybridization (FISH) revealed an abnormal male karyotype showing trisomy of chromosome 27 (65, XY + 27). The colt was euthanized at 24 months of age, and a necropsy revealed no significant abnormalities. This case of trisomy was not associated with developmental abnormalities described in other rare reports of trisomy in horses; however, some features were strikingly similar to that of humans with trisomy 21. FISH was demonstrated to be an excellent method for correct identification of equine chromosomes.  相似文献   

14.
布尔山羊的染色体核型分析   总被引:6,自引:1,他引:5  
采用外周血淋巴细胞培养法,对布尔山羊的染色体核型进行了分析。结果表明,布尔山羊的二倍体染色体数目为2n=60,公羊核型为60,XY;母羊核型为60,XX。共有29对常染色体和1对性染色体。所有常染色体均为端部着丝点染色体;X染色体为第二大的端部着丝点染色体,Y染色体为最小的天是唯一的中部着丝点染色体。研究发现,布尔山羊存在1.7%的三倍体和5.9%的四倍体。  相似文献   

15.
Cytogenetical studies were made on 6 infertile pigs. Post-mortem examination of the reproductive organs of 5 of these pigs showed them to be intersexes. Regardless of the degree of gonadal deviation from the normal, chromosome karyotype of cultured peripheral blood lymphocytes, bone marrow, liver and kidney, revealed that 4 of the intersexes had a 38, XX constitution. One intersex exhibited sex chromosome mosaicism (38XX/38XY) in lymphocytes from the peripheral blood and bone marrow and a normal male karyotype (38XY) in cultured liver and kidney cells. The sixth pig, a phenotypically normal boar, also had a 38XX/38XY chromosome constitution.  相似文献   

16.
Chromosomal abnormalities have been detected in five mares identified by their poor reproductive performance. All had small gonads and absent or irregular oestrous cycles. One mare was 65, XXX, two were 64, XY sex-reversal females and two were sex chromosome mosaics with karyotypes of 63, XO/64, XX/64, XY and 63, XO/64, XX respectively. This report supports the suggestion made in earlier studies that sex chromosome abnormalities may be a significant cause of sterility in the mare.  相似文献   

17.
Sex chromosome abnormalities have been detected in a further five mares with clinical histories of small ovaries and absent or irregular oestrous cycles. Three mares had 63,XO karyotypes (X monosomy) and two were sex chromosome mosaics with karyotypes of 63,XO/64,XY and 63,XO/64,XX/64,XY respectively. A sex chromosome abnormality (X monosomy) has also been found in a filly where it was suspected because of her short stature.  相似文献   

18.
Sex chromosome abnormalities have been detected in a further five mares with clinical histories of small ovaries and absent or irregular oestrous cycles. Three mares had 63,XO karyotypes (X monosomy) and two were sex chromosome mosaics with karyotypes of 63,XO/64,XY and 63,XO/64,XX/64,XY respectively. A sex chromosome abnormality (X monosomy) has also been found in a filly where it was suspected because of her short stature.  相似文献   

19.
Genetic aberrations linked to tumorigenesis have been identified in both canine and human hematopoietic malignancies. While the response of human patients to cancer treatments is often evaluated using cytogenetic techniques, this approach has not been used for dogs with comparable neoplasias. The aim of this study was to demonstrate the applicability of cytogenetic techniques to evaluate the cytogenetic response of canine leukemia to chemotherapy. Cytology and flow cytometric techniques were used to diagnose chronic myelomonocytic leukemia in a dog. High‐resolution oligonucleotide array comparative genomic hybridization (oaCGH) and multicolor fluorescence in situ hybridization (FISH) were performed to identify and characterize DNA copy number aberrations (CNAs) and targeted structural chromosome aberrations in peripheral blood WBC at the time of diagnosis and following one week of chemotherapy. At the time of diagnosis, oaCGH indicated the presence of 22 distinct CNAs, of which trisomy of dog chromosome 7 (CFA 7) was the most evident. FISH analysis revealed that this CNA was present in 42% of leukemic cells; in addition, a breakpoint cluster region‐Abelson murine leukemia viral oncogene homolog (BCR‐ABL) translocation was evident in 17.3% of cells. After one week of treatment, the percentage of cells affected by trisomy of CFA7 and BCR‐ABL translocation was reduced to 2% and 3.3%, respectively. Chromosome aberrations in canine leukemic cells may be monitored by molecular cytogenetic techniques to demonstrate cytogenetic remission following treatment. Further understanding of the genetic aberrations involved in canine leukemia may be crucial to improve treatment protocols.  相似文献   

20.
采用外周血微量全血培养法研究了生活在青海省三角城种羊场的青海细毛羊、新疆细毛羊、藏系绵羊的染色体核型及畸变。结果表明:三种绵羊二倍体细胞的染色体数目均为2n=54,NF=62,公羊核型为54,XY;母羊为54,XX。染色体畸变类型主要为结构断裂和多倍体,其频率分别为:青海细毛羊1.530%和1.844%;新疆细毛羊2.292%和1.568%;藏系绵羊2.022%和1.103%,并对三种羊的畸变类型进行下检验,结果差异均为极显著(P<0.01)。  相似文献   

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