scholarly journals GENETIC STRUCTURE OF HORSES POPULATION FOR THE GENES OF SCID AND HYPP

2017 ◽  
Vol 53 ◽  
pp. 248-253
Author(s):  
E. S. Cheburanova ◽  
O. A. Epishko ◽  
T. I. Kuzmina

Objective: identification of carrier animals of the hereditary anomaly SCID and HYPP of the population of horses bred on breeding horse farms of the Republic of Belarus. Methods: genetic, biological. DNA diagnosis of genotypes in the gene severe combined immunodeficiency (SCID) and hyperkaliemic periodic paralysis (HYPP) was performed using polymerase chain reaction (PCR) and restriction fragment length polymorphism (RFLP) in the research laboratory «DNA Technology» of educational establishment «Grodno State Agrarian University». We tested 50 horses of different breeds, kept on different breeding horse farms of Belarus. DNA was isolated from buccal epithelium by perchlorate method with double purification (according to the method of Zinovieva). A study of the genetic structure of the horse population for hereditary anomalies of severe combined immunodeficiency and hyperkalemic periodic paralysis was performed using modern equipment. Amplification was carried out using the C1000 Touch thermal cycler (BioRad, USA). The visualization of the gel was carried out using the gel-documenting system Gel Doc XR + (Bio- Rad, USA). Main results. The use of modern methods for the genetic diagnosis of hereditary diseases of agricultural animals not only at birth to exclude from the process of reproduction of animal carriers of hereditary anomalies, but also reduces funding for their maintenance and cultivation. In the studies we used the PCR method based on the use of specific oligonucleotides with which the amplification of the necessary fragment of the 163 gene occurs in healthy individuals and 158 in the mutation carriers, which makes it possible to identify the hereditary SCID disease. We tested 50 animals of the upper and Arabian breeds, as well as horses with an admixture of Arabian blood, among which no carriers of the hereditary anomaly were found. In studies, the PCR-RFLP analysis method was used, based on the use of distinctive primers due to which the necessary fragment of the gene is amplified, which makes it possible to identify the hereditary HYPP disease. Amplified fragments were subjected to the action of restriction enzymes, with the help of which it is possible to determine the genotype of the animal under study. We tested 50 animals of the upper and Arabian breeds, as well as horses with an admixture of Arabian blood, among which no carriers of the hereditary anomaly were found. Conclusions. Severe combined immunodeficiency (SCID) is an autosomal recessive disease that occurs in humans, mice, horses and dogs. Carriers of this hereditary disease are born without visible anomalies, but after 2 weeks they become ill from any infection and die, since they can not develop an antigen-specific immune response. Hyperkaliemic periodic paralysis (HYPP) is an autosomal dominant disease that occurs in horses at the age of 2, when the animal begins, is strengthened to exercise. Symptoms of this disease are weakness of the muscles, periodic spasms, paralysis, which can lead to death. Presumably, there were no carriers of severe combined immunodeficiency in the Republic of Belarus, since breeding farms for breeding horses did not use biological material of Arabian and local breeds of horses for insemination. With subsequent importation of Arabian horses, as well as breeds that have an admixture of Arab blood, it is necessary to conduct DNA testing for the presence of severe combined immunodeficiency (SCID). According to the results of the conducted studies to identify the hereditary disease of hyperkalemic periodic paralysis (HYPP) in the horse population, no carriers were found, as well as sick animals. Presumably, there were no carriers of this disease on the territory of the republic, as evidenced by parallel studies conducted in other European countries, where no carrier or sick animal was found. This suggests that the disease was localized during the time, and also did not leave the territory of the American continent.

2011 ◽  
Vol 31 (11) ◽  
pp. 618-624
Author(s):  
Mohammed Piro ◽  
Abdelaziz Benjouad ◽  
Abdelghafor Karom ◽  
Ahmed Nabich ◽  
Noureddine Benbihi ◽  
...  

Genes ◽  
2021 ◽  
Vol 12 (12) ◽  
pp. 1893
Author(s):  
Abdelhanine Ayad ◽  
Saria Almarzook ◽  
Omar Besseboua ◽  
Sofiane Aissanou ◽  
Katarzyna Piórkowska ◽  
...  

Genetic disorders in horses are mostly fatal or usually cause significant economic losses for breeders and owners. Here we studied a total of 177 Arabian, Barb and Arab-Barb horses from the Middle East and North Africa (MENA) using Sanger Sequencing and PCR-ACRS (polymerase chain reaction—artificially created restriction site) approaches to examine the genetic disorders in the studied horse breeds. We identified the genetic variations related to Cerebellar Abiotrophy (CA), Severe Combined Immunodeficiency (SCID) occurrence, and the studied population was free of the mutant allele determined Lavender Foal Syndrome (LFS). Overall, presented data showed that 15 of the studied horses are carriers of two genetic disorders; the investigated horse population showed that five Arabian horses were heterozygous for the CA-associated SNP (rs397160943). The SCID-deletion TCTCA within PRKDC was detected in ten horses (nine Arabian horses and one Arab-Barb horse). This investigation shows the importance of testing these breeds for genetic disorders to avoid further spread of deleterious variants


Author(s):  
Hamid Nawaz Tipu ◽  
Dawood Ahmed

Abstract Objective: The aim of this study was to describe and identify clinical presentation of primary immunodeficiency disorders (PIDs). Characteristic quantitative and qualitative immunological abnormalities have been described which help in establishing a definitive PID diagnosis. Methods: Cross sectional study in Immunology department, Armed Forces Institute of Pathology, Rawalpindi, Pakistan, from Jan 2016 to Dec 2018. Sixty patients of different PIDs including humoral defects, combined immunodeficiency, phagocytic defects and other miscellaneous disorders, were diagnosed over a period of 3 years in our institute. Their clinical presentation and laboratory data are presented in this study. Results: In 3 years, 40 (66%) males and 20 (33%) females were diagnosed, with 13 (21.6%) patients of humoral deficiency, 22 (36.6%) of severe combined immunodeficiency, 18 (30%) of phagocytic defects and 7 (11.6%) of other miscellaneous disorders. Maximum patients belonged to Punjab province, i.e., 23 (38.3%). Their mean age for initiation of symptoms was 7 + 12.6 months, while diagnosis was made at mean age of 26 + 39.28 months, in all groups combined. Respiratory infections were commonest presentation, in 46 (76.6%) patients. Also 46 (76.6%) patients had consanguineous parents. Presence of family history of PID in 27 (45%) patients is not associated with an earlier diagnosis (p 0.955). Each group of patients carried characteristic laboratory findings. Conclusion: PIDs should be suspected in offsprings with warning signs coming from consanguineous parents. There is a need to introduce genetic diagnosis of PIDs in order to timely diagnose less characteristic PID presentations. Continuous...


2020 ◽  
Vol 34 ◽  
pp. 49-65
Author(s):  
Fernando Carlos Pellegrino

En los humanos, las canalopatías del músculo esquelético son entidades de base genética y de incidencia muy baja. En relación al canal de sodio en particular, las diferentes mutaciones SCN4A pueden dar lugar a diversos fenotipos que van desde la parálisis muscular (parálisis periódica hipercalémica, parálisis periódica hipocalémica) a la hiperexcitabilidad muscular (paramiotonía congénita, miotonías agravadas por potasio), pasando por fenotipos combinados de las dos anteriores. Existe una estrecha interrelación entre la parálisis periódica hipercalémica y las miotonías; ambas características pueden coexistir en el mismo paciente.Este trabajo describe un cuadro clínico que afectó a una camada de 7 cachorros Pastor Alemán y a una camada de 4 cachorros Shi-Tzú, con episodios caracterizados por un fenotipo clínico de parálisis muscular combinado con hiperexcitabilidad muscular.De acuerdo a los hallazgos clínicos (fenomenología clínica, edad de aparición, recurrencia de los episodios, ausencia de signos clínicos entre los episodios) y de laboratorio (hipercalemia), y a los resultados del tratamiento con acetazolamida, el diagnóstico presuntivo fue parálisis periódica hipercalémica con miotonía/paramiotonía por una canalopatía SCN4A.Destacamos la importancia del diagnóstico clínico para estas raras patologías. En ausencia de diagnóstico genético, los métodos de diagnóstico complementario tiene valor limitado debido al carácter funcional de estos trastornos.Proponemos esta comunicación como la primera de este tipo en perros de raza Pastor Alemán y Shi-Tzú. In humans, skeletal muscle channelopathies are genetic disease with very low incidence. Regarding the sodium channel in particular, the different SCN4A mutations can result in various phenotypes ranging from muscle paralysis (hyperkalemic periodic paralysis, hypokalemic periodic paralysis) to muscle hyperexcitability (congenit paramyotonia, myotonias aggravated by potassium), through combined phenotypes of the previous two. There is a close interrelation between hyperkalemic periodic paralysis and myotonias; both characteristics can coexist in the same patient.This work describes a clinical picture affecting a litter of 7 German Shepherd puppies and a litter of 4 Shih-Tzu puppies with episodes characterized by a clinical phenotype of muscular paralysis combined with muscular hyperexcitability.Based on clinical findings (clinical phenomenology, age of onset, episodic recurrence, absense of clinical signs in the period between episodes) and laboratory (hyperkalemia), and the results of treatment with acetazolamide, the presumptive diagnosis was hyperkalemic periodic paralysis with myotonia/paramyotonia due to SCN4A channelopathy.We emphasize the importance of clinical diagnosis for these rare pathologies. In absence of genetic diagnosis, complementary diagnostic methods have limited value due to the functional nature of these disorders.We proposed this description as the first communication of this type in German Shepherd and Shi-Tzu dogs.


Author(s):  
Taravat Talebi ◽  
Alirezai Biglari ◽  
Mohammad Shahroeei ◽  
Majid Changi-Ashtiani ◽  
Hossein Dinmohammadi ◽  
...  

Severe combined immunodeficiency (SCID) comprises a heterogeneous group of genetic disorders caused by early defects in the development and function of T cells. Other lymphocyte lineages (B and/or natural killer cells) are variably affected. With a worldwide frequency of approximately 1:50,000 live births, SCID may result from diverse mutations in over 16 genes. Whole-exome sequencing (WES) provides an opportunity for parallel screening of all those genes. This approach is also useful for genetic diagnosis in parents whose infant expired before genetic testing. Here, we describe a heterozygous novel non-frameshift deletion (c.587_598del p.196_199del) in the adenosine deaminase (ADA) gene identified by WES in healthy parents of an expired child with SCID. The mutation was subsequently confirmed to be homozygous in the deceased baby whose left-over blood sample volume was insufficient for direct WES analysis. In conclusion, we here describe a novel mutation in ADA, a well-known SCID gene.  


Blood ◽  
2011 ◽  
Vol 117 (11) ◽  
pp. 3243-3246 ◽  
Author(s):  
Lucinda Brown ◽  
Jinhua Xu-Bayford ◽  
Zoe Allwood ◽  
Mary Slatter ◽  
Andrew Cant ◽  
...  

Abstract Severe combined immunodeficiency (SCID) carries a poor prognosis without definitive treatment by hematopoietic stem cell transplantation. The outcome for transplantation varies and is dependent on donor status and the condition of the child at the time of transplantation. Diagnosis at birth may allow for better protection of SCID babies from infection and improve transplantation outcome. In this comparative study conducted at the 2 designated SCID transplantation centers in the United Kingdom, we show that SCID babies diagnosed at birth because of a positive family history have a significantly improved outcome compared with the first presenting family member. The overall improved survival of more than 90% is related to a reduced rate of infection and significantly improved transplantation outcome irrespective of donor choice, conditioning regimen used, and underlying genetic diagnosis. Neonatal screening for SCID would significantly improve the outcome in this otherwise potentially devastating condition.


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