Sequence analysis of the Hex A gene in Jacob sheep from Bulgaria

Vet World Vol.14 January-2021 Article-7

Research Article

Veterinary World, 14(1): 56-60

https://doi.org/10.14202/vetworld.2021.56-60

Boyko Neov¹, Jivko Krastanov², Teodora Angelova², Nadezhda Palova³, Stayka Laleva², and Peter Hristov¹

1. Department of Animal Diversity and Resources, Institute of Biodiversity and Ecosystem Research, Bulgarian Academy of Sciences, Sofia 1113, Bulgaria.
2. Department of Breeding and Technologies in Cattle Breeding, Agricultural Institute – Stara Zagora, Agricultural Academy, Stara Zagora 6000, Bulgaria.
3. Scientific Center of Agriculture, Sredets 8300, Agricultural Academy, Bulgaria.

Background and Aim: Jacob sheep are a rare ancient breed of sheep believed to have originated from the Mediterranean area but which are now kept throughout the world. These sheep have recently attracted medical interest due to the observation of a genetic disorder in the breed that can be used as an animal model of Tay–Sachs disease (TSD). This study aims to detect mutations in the Hexosaminidase A gene in Jacob sheep based on sequence analysis of the 284-bp fragment situated between exon 11 and intron 11 of the gene, a target sequence for site-specific mutation. This is the first study that has investigated Jacob sheep in Bulgaria for gene-specific mutations.

Materials and Methods: A total of 20 blood samples were collected from Jacob sheep from the Rhodope Mountains. DNA was isolated from these samples, and a specific 284-bp fragment was amplified. The amplified products were purified using a polymerase chain reaction purification kit and sequenced in both directions.

Results: Target sequences were successfully amplified from all 20 investigated sheep. Sequence analysis did not show the homozygous, recessive, missense (G-to-C transition) mutation at nucleotide position 1330 (G1330→C) in exon 11, demonstrating that all of these sheep were a normal genotype (wild-type).

Conclusion: Jacob sheep are considered a potentially useful animal model in advancing the understanding of pathogenesis and developing potential therapies for orphan diseases, such as those characterized by mutant GM2 gangliosides. The clinical and biochemical features of the Jacob sheep model of TSD represent well the human classical late-infantile form of this disorder, indicating that the model can serve as a possible new research tool for further study of the pathogenesis and treatment of TSD. Keywords: GM2 gangliosides, Hexosaminidase A gene, human replacement therapy, Jacob sheep, Tay–Sachs disease.

Keywords: GM2 gangliosides, Hexosaminidase A gene, human replacement therapy, Jacob sheep, Tay–Sachs disease.

How to cite this article: Neov B, Krastanov J, Angelova T, Palova N, Laleva S, Hristov P (2021) Sequence analysis of the Hex A gene in Jacob sheep from Bulgaria, Veterinary World, 14(1): 56-60.

Received: 12-10-2020 Accepted: 25-11-2020 Published online: 08-01-2021

Corresponding author: Peter Hristov E-mail: peter_hristoff@abv.bg

DOI: 10.14202/vetworld.2021.56-60

Copyright: Neov, et al. This article is an open access article distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The Creative Commons Public Domain Dedication waiver (http:// creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated.