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1.
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   

2.
A 4-year-old Icelandic horse, considered to be a mare, showed stallion-like behavior in a group of mares. On clinical examination, the horse turned out to have an enlarged erectable phallic clitoris. Ultrasound examination showed a normal-sized left ovary covered with numerous small follicular cysts and a compact testis-like tissue in place of the right ovary. The karyotype was normal for a mare (64,XX), and the horse was found to be negative for the Y chromosome–specific markers SRY, ZFY, and EIF1AY. This case indicates that the intersexual phenotype may be caused by autosomal recessive mutation, resulting in defects in cortisol biosynthesis rather than transferal of Y chromosome male–specific genes. This is the first report of an intersexual phenotype in an Icelandic horse that is likely to be a true hermaphrodite because of female sex chromosomes and a mixture of female and male gonads and external genitals.  相似文献   

3.
Here is reported a disorder of sex development found in the Portuguese Lusitano horse breed. The complex genital phenotype included mammary glands, abdominal testes without epididymis, connected through oviducts to pelvic hypoplastic uterine horns and fused vulvar labia majora from which protruded ventrally a penis‐like structure. This structure was presented in a reversed position, the urethral opening placed dorsally in the glans. However, it was functional both for micturition and erection. The horse exhibited female micturition posture and aggressive male‐like behaviour, including flehmen, mounting, thrusting and flagging of the tail. Plasma testosterone concentrations were below detection limits and the genetic evaluation revealed a 64, XX, SRY‐negative karyotype. Surgery consisted in the removal of abdominal gonads followed by amputation of the penis and repositioning of the urethra. This case of reversion between the chromosomal and gonadal sex, associated with mixed anatomical and behavioural phenotype, illustrates that development of the testes may occur in the absence of the SRY gene and that other genetic and cellular pathways leading to gonad differentiation should be investigated.  相似文献   

4.
Chromosomal abnormalities are one of the main causes of genetic infertility in horses. Currently, their detection rate is rising due to the use of new diagnostic tools employing molecular markers linked to the sex chromosome pair. Despite genetic similarities, there are no previous reports of sterility associated with chromosomal abnormalities in the domestic donkey (Equus asinus). Hereby, we determined the presence of a chromosomal mosaicism in a female donkey with reproductive problems using molecular methodologies developed for horses. A two‐and‐a‐half‐year‐old jenny characterized by morphological abnormalities of the reproductive tract was cytogenetically analysed using conventional and fluorescent techniques and a group of microsatellite markers (short tandem repeat, STR). At the same time, five ultrasound measures of the reproductive tract were taken and compared with eight contemporary jennies of the same breed. After slaughter, morphological examinations showed that the case study had a blind vaginal vestibule defining an empty pouch that covered the entrance of the cervical os. Histopathological studies demonstrated that this abnormal structure was compatible with a remnant hymen. Molecular markers, STR and fluorescent in situ hybridization determinations revealed that the animal was a 62, XX/61,X mosaic and, therefore, the first case of chromosomal abnormalities in the sex pair reported in donkeys.  相似文献   

5.
Congenital abnormalities of the uterus and the cervix are rare in horses, often associated with infertility, despite normal ovarian activity and sexual behaviour. An abnormality of the cervix in a 5‐year‐old jennet with a history of infertility was described. Clinical and ultrasound examination of the genital tract showed a normal development of the uterus with regular cyclic activity in both the ovaries. Vaginoscopy revealed a normal development of the vagina and a cervix deviated on the left side of the vagina by a thick dorsoventral fold. The lateral deviation was permanent in any stage of oestrus cycle. Furthermore, the cervical os was narrow and digital penetration was not realizable. Using a 5‐mm catheter, the full penetration was not possible even during oestrus; moreover, the inoculation of fluid could be revealed in uterus by ultrasound (fluid was not present before inoculation), demonstrating a minimal patency. An abnormal and permanent lateral displacement of a stenotic cervix was suspected as the primary cause of infertility in the jennet.  相似文献   

6.
Background: Growing interest in veterinary oncohematology has facilitated the recent development and advancement of new techniques, such as flow cytometry, for immunophenotyping hematopoietic neoplasia in animals. Objective: The aim of this retrospective study was to characterize hematologic abnormalities and flow cytometric immunophenotyping (FCI) results in cases of hematopoietic neoplasia in dogs. Methods: Signalment, CBC data, and FCI results were obtained for 210 dogs with blood samples submitted to our laboratory. Immunophenotyping was carried out using an Epics XL‐MCL flow cytometer and a panel of 10 antibodies (CD45, CD3, CD4, CD8, CD79, CD21, CD14, CD34, CD41/61, CD61). The prevalence and severity of hematologic abnormalities was determined for the different types of hematopoietic neoplasms. Results: Based on cell morphology and phenotype, cases were classified as: acute lymphoblastic leukemia (ALL, n=51), acute myeloid leukemia (AML, n=33), chronic lymphocytic leukemia (CLL, n=61), and leukemic high‐grade lymphoma (L‐HGL, n=65). Most cases of ALL (47/51) and L‐HGL (41/65) had a B‐cell phenotype, while most cases of CLL (54/61) had a T‐cell phenotype, with a high prevalence of the large granular lymphocyte subtype (49/61). Anemia was found in 85% of all cases and was significantly more severe in ALL and AML compared with CLL and L‐HGL. Neutropenia was seen in 64–78% of acute leukemias (AML and ALL) in contrast to no cases of CLL and 11% of L‐HGL. Thrombocytopenia was seen in 88–90% of acute leukemias in contrast to 15% of CLL and 40% of L‐HGL. Thrombocytopenia was more prevalent (71% vs 22%) and significantly more severe in T‐cell vs B‐cell L‐HGL. Conclusion: A standard CBC is useful in suggesting the type of hemoproliferative disorder and may also help to predict the phenotype, especially in cases of L‐HGL.  相似文献   

7.
An eight‐month‐old female dog presented with ambiguous external genitalia. A thorough clinical examination together with various imaging techniques and a histology examination showed the presence of two testicles linked to both the Mullerian and Wolffian ducts. The discovery of the 78,XX SRY‐negative karyotype led to the diagnosis of incoherence between the chromosomal and gonadal sex, which is typical for a 78,XX testicular disorder of sex development. Our case was unique because the testicles were still located in their normal scrotal position, whereas the literature contains reports of the presence of cryptorchid testicles in this karyotype setting. To our knowledge, this is the first case that describes an SRY‐negative 78,XX testicular disorder of sex development with bilateral scrotal testicles.  相似文献   

8.
This case report describes an uncommon case of a congenitally incompetent cervix and a resulting pneumouterus in a 5‐year‐old maiden Quarter Horse mare. The mare was presented for artificial insemination at the Clinic for Animal Reproduction, Freie Universität Berlin, Germany. Routine vaginal and rectal examinations revealed a shortened cervix of 3 cm length and a dilated uterus filled with a considerable amount of air. During ultrasonographic examination, ovaries of normal size with regular cyclic activity were detected. Chromosomal analysis could not confirm any genetic anomalies such as an expected XO karyotype. The mare was excluded from breeding due to its anatomical constitution.  相似文献   

9.
Chromosomal abnormalities are a major cause of infertility and reproductive problems in equids. Nowadays, their detection is rising due to the use of new diagnostic tools based on molecular markers instead of karyotyping. Reports of this kind of genetic aberrations in domestic donkeys (Equus asinus) are extremely scarce, despite their importance in human activities. In the present study, we analysed the implementation of a short‐tandem‐repeat (STR)‐based molecular method initially developed for horses, as a diagnostic tool to detect chromosomal abnormalities in donkeys. The frequency of five X‐linked (LEX003, LEX026, TKY38, TKY270 and UCEDQ502) and one Y‐linked (ECAYM2) molecular markers and one Y‐linked gene (sex‐determining region Y, SRY) was characterized in 121 donkeys from two diverse breeds, the Spanish Andalusian and the African Moroccan breeds. The molecular panel showed 100% sensitivity and 99.67% specificity in detecting 10 different chromosomal abnormalities in the species. In conclusion, this methodology is a valid, rapid and low‐cost tool for the detection and characterization of chromosomal abnormalities in domestic donkeys.  相似文献   

10.
An approximately six‐month‐old wild American black bear (Ursus americanus) was found wandering in Saskatchewan and was presented to the Veterinary Medical Centre of the Western College of Veterinary Medicine for apparent blindness. Clinical examination confirmed an inability to navigate a photopic maze, bilateral tapetal hyper‐reflectivity, fundi devoid of retinal vessels, and small pale optic nerve papillae. Single‐flash electroretinography revealed A and B‐wave amplitudes of approximately 40 and 140 microvolts, respectively, in both eyes. Histologic abnormalities included bilateral optic papillary mineralization and bilateral segmental optic nerve degeneration, with occasional intralesional lymphocytes confirmed with immunohistochemistry for CD3+. There was also bilateral multifocal retinal dysplasia, gliosis, lymphocytic retinitis, a complete lack of retinal blood vessels, an intravitreal vascular membrane, and a mild lymphocytic–plasmacytic uveitis with small pre‐iridal cellular membranes. The presence of a positive ERG in a blind bear with numerous retinal ganglion cells and degenerative changes in the optic nerve are most consistent with vision loss due to optic nerve injury, which given the young age of the bear likely occurred during ocular development. The presence of ocular inflammation suggests this injury resulted from an inflammatory/infectious process. The etiology could not be determined. Hepatic concentrations of vitamin A were within the normal reference range for domestic species. Pan‐herpesvirus PCR and immunohistochemistry for canine distemper virus and Toxoplasma gondii were negative, although this does not rule out these or other infectious etiologies. This represents the first case report of neonatal or congenital ocular abnormalities in an ursid species.  相似文献   

11.
Thoracic radiographs are used as a screening tool for dogs and cats with a variety of disorders that have no clinical signs associated with thoracic structures. However, this practice has never been supported by an evidence‐based study. The objective of this retrospective observational study was to determine if certain canine and feline populations have a higher proportion of radiographic abnormalities, and whether any of these abnormalities are associated with patient hospitalization and outcome. Patients were excluded if current or previous examinations revealed evidence of primary respiratory or cardiac disease, malignant neoplasia, or an abnormal breathing pattern consistent with pulmonary pathology. Any notable thoracic change in the radiology report was considered important and evaluated in this study. One hundred and sixty‐six of these included patients were dogs and 65 were cats. Of the 166 dog radiographs evaluated, 120 (72.3%) had normal thoracic radiographs, while 46 (27.7%) had radiographic abnormalities. Of the sixty‐five cats included, 36 (55.4%) had normal radiographs, while 29 (44.6%) had abnormal radiographs. Canine patients with abnormal radiographs had a significantly higher lactate level (P‐value 0.0348) and feline patients with abnormal radiographs had a significantly lower packed cell volume (P‐value 0.012). A large proportion of patients that had screening thoracic radiographs (32.5%) had documented abnormalities, but a relatively low percentage (6.5%) of our total population had their clinical plan changed as a consequence of detection of these abnormalities. Findings indicated that abnormal screening thoracic radiographs are more likely in dogs with an elevated lactate and cats with anemia, or a low normal hematocrit.  相似文献   

12.
The sheep callipyge (CLPG) phenotype, a well‐known muscular hypertrophy syndrome, is caused by an A‐to‐G transition in the CLPG1 locus. The mechanisms of CLPG phenotype are very complicated and remain to be further studied. Lacking suitable animal models containing CLPG mutations may partially contribute to these unanswered mechanisms. In this study, we confirmed that the CLPG1 locus, especially the 12‐bp CLPG1 motif, is conserved in mammalian animals including rabbit. Then, we generated seven CLPG1‐edited rabbits with 100% efficiency using CRISPR/Cas9 system combined with cytoplasm injection technology. All the newborn rabbits were mosaicism with numerous kinds of mutations around the target sites. Among the nine screened potential off‐target sites (POTs) for the two sgRNAs used in this study, none off‐target effect was detected. This indicated that we efficiently and precisely generated CLPG1‐edited rabbits, and we believe that these newly generated rabbits will do help to unravel the mechanisms of the CLPG phenotype in the future.  相似文献   

13.
Reasons for performing study: Arthropathy of the caudal cervical articular process joints (APJs) in the horse is documented as a cause of ataxia and paresis secondary to spinal cord compression. Enlargement of the caudal APJs is reported to increase with age, but there are no known associations of any other factors. No association of the degree of APJ enlargement with neurological signs seen has been documented. This study investigated the associations of cervical APJ enlargement at the C5‐C6 and C6‐C7 articulations with case subject details (breed, age, sex, usage) and clinical signs. Objectives: To ascertain if there are of any associations between: the subject details and enlargement of the caudal cervical APJs; and the degree of APJ enlargement and the presence and type of clinical signs. Hypotheses: There would be an effect of age, breed and usage on APJ grade, with no effect of sex. Association between grade and clinical signs seen was also investigated. Materials and methods: The radiographs of 122 horses qualified for inclusion. Horses were excluded if they were known to have a neck lesion cranial to C5‐C6, or if the radiographs were rotated or of poor quality. In order to standardise the interpretation of APJ enlargement, a novel grading system was developed and used. Results: An association was found between age and APJ grade at C5‐C6 but not C6‐C7. There was no association between grade, breed, sex and usage, or clinical signs seen. Data also showed a trend for increasing enlargement the more caudal the APJ. Conclusion and potential relevance: The data in this study support that the size of the caudal cervical APJ at the level of C5‐C6, appear to increase with age, but this enlargement may not be significant. Enlargement cannot be associated with breed, sex or discipline of the horse at present, and specific grades and therefore degree of enlargement, cannot necessarily be assumed to be the cause of neurological deficits.  相似文献   

14.
A confirmatory scan for the regions of bovine chromosome 1 segregating the quantitative trait loci (QTL) influencing birthweight, weaning weight, yearling weight, and preweaning and postweaning average daily gains was performed by genotyping half‐sib progeny of four Japanese Black sires using microsatellite DNA markers. Data were analyzed by generating an F‐statistic every 1 cM on a linkage map by the regression of phenotype on the probabilities of inheriting an allele from the sire after adjusting for the fixed effects of sire, sex, parity and season of birth as well as age as a covariate. Permutation tests at chromosome‐wide significance thresholds were carried out over 10 000 iterations. A significant QTL for birthweight at 114 cM was detected in the sire 2 family. This identification of a birthweight QTL in Japanese Black cattle may be useful for the implementation of marker‐assisted selection.  相似文献   

15.
Reasons for performing study: Magnetic resonance imaging (MRI) is used with increasing frequency to diagnose injuries of the collateral ligaments (CLs) of the distal interphalangeal (DIP) joint, but the results have not been verified by histology and the mechanism of injury is poorly understood. Hypothesis: Abnormal signal intensity and tissue contour represents change in tissue structure detected on histology. Objectives: To compare results in horses free from and those with chronic lameness and to describe possible progression of lesions. Methods: One or both feet of horses free from lameness (Group N: n = 12) and with foot‐related lameness (Group L: n = 25) were examined using MRI and by gross post mortem examination. The magnetic resonance (MR) images were graded. Sagittal sections from the proximal and distal aspect of each CL were examined histologically and each ligament assigned a score. Scintigraphic images from lame horses were also evaluated. Results: In Group N, 25 CLs were graded normal on both MR images and histology, 2 CLs were grade 1 on MR images, but were histologically normal, and 2 CLs had MR abnormalities verified histologically. However, 2 CLs appeared normal on MR images but were histologically abnormal. In Group L, 18 CLs were deemed normal on both MR images and histology, and 54 CLs had MR abnormalities verified histologically. However, 13 CLs appeared normal on MR images but were graded abnormal histologically. Lesions appeared to be degenerative, characterised by extensive fibrocartilaginous metaplasia and development of multiple, intercommunicating fissures within the degenerate collagen in severe lesions. There was an association between increased radiopharmaceutical uptake and a higher histological score. Conclusions: High‐field MRI is reasonably reliable for detection of lesions of the CLs of the DIP joint, but may underestimate their prevalence. Clinical relevance: Collateral ligament injury appears to be a primary degenerative process, which may explain the poor response to conservative treatment and a need for promotion of regeneration.  相似文献   

16.
Reasons for performing study: Osseous spurs on the dorsoproximal aspect of the third metatarsal bone (MtIII) are common, but their clinical significance is unknown. Objectives: To verify the sites of insertion of the dorsal metatarsal ligament and the tendons of tibialis cranialis and fibularis tertius in order to determine if periarticular osteophytes and entheseophytes could be differentiated radiologically; and to determine the frequency of occurrence of osseous spurs on the dorsoproximal aspect of MtIII. Hypotheses: The frequency of osseous spurs on the dorsoproximal aspect of MtIII would be higher in lame than in clinically normal horses and higher in horses with distal hock joint pain or proximal suspensory desmitis than in horses with other causes of hindlimb lameness. Methods: A retrospective study of data from the clinical work up and tarsal radiographs of 455 horses was performed. Horses were divided into: Group 1, clinically normal horses; Groups 2–5, according to the diagnosis of hindlimb lameness. Radiographs were examined for the presence of an osseous spur on the dorsoproximal aspect of MtIII; pathology of the distal tarsal joints was graded. The associations between the presence of a spur and lameness, diagnosis group and the grade of distal tarsal joint abnormalities were analysed statistically using Chi‐squared tests. Results: An osseous spur was present in 25% of horses; 13% of horses with bilateral radiographs had bilateral spurs. There was no significant difference in frequency of the presence of a spur between lame and nonlame horses, or between horses with other causes of hindlimb lameness and horses with proximal suspensory desmitis and/or distal tarsal joint pain. The presence of an osseous spur was significantly associated with the grade of radiological abnormality in the distal tarsal joints (tarsometatarsal joint P = 0.018: centrodistal joint P = 0.027). In many horses it was not possible to differentiate accurately between osteophytes and entheseophytes. Conclusions and potential relevance: The presence of an osseous spur on the dorsoproximal aspect of MtIII in the absence of other radiological abnormalities may be an incidental finding. Osseous spurs occur more frequently in hocks with radiological abnormalities in the distal tarsal joints and may be an indicator of distal tarsal joint osteoarthritis. The clinical significance must be established by intra‐articular analgesia.  相似文献   

17.
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18.
The involvement of epidermal growth factor receptor (EGFR) is well established in human breast cancer, however, in canine mammary tumours (CMT), including inflammatory mammary carcinomas (IMC), still needs to be clarified. Enzyme immune assay techniques were used for EGFR determinations in tumour tissue from 45 bitches with CMT and in normal mammary glands from eight control dogs. Higher tissue EGFR levels were found in CMT compared with controls (P < 0.05). In malignant CMT, tissue EGFR elevated concentrations were statistically significantly associated with tumour relapse and/or distant metastasis during follow‐up and with reduced disease‐free and overall survival times. The IMC cases had the highest tissue EGFR levels compared with other malignant non‐IMC tumours (P < 0.001). The results support the hypothesis that EGFR levels influence prognosis in malignant CMT, suggesting that EGFR may represent a therapeutic target in cases of high histological aggressiveness and especially in cases of metastatic phenotype and poor prognosis.  相似文献   

19.
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20.
Effect of the strain combination of the donor and recipient on production efficiency of W‐bearing sperm in mixed‐sex chimeric testes was analyzed. The combinations of the donors and recipients were White Leghorn (WL) and Rhode Island Red (RIR), and vice versa. Generated mixed‐sex chimeras that had the male phenotype at sexual maturity were classified into four groups: (1) a female WL donor and a male RIR recipient; (2) a male WL donor and a female RIR recipient; (3) a female RIR donor and a male WL recipient; (4) a male RIR donor and a female WL recipient. The mean number of W‐bearing sperm detected by in situ hybridization among 10 000 sperm observed were 147, 165, 30 and 45 in groups 1, 2, 3 and 4, respectively. The numbers in groups 1 and 2 were both significantly higher than those of groups 3 and 4 (P < 0.05). The combination of a WL donor and a RIR recipient produced W‐bearing sperm more efficiently than the reverse combination.  相似文献   

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