بررسی حضور جهش نقطه ای در اینترون 7 ژن B4GALNT2 و ارتباط آن با چندقلوزایی در گوسفند نژاد شال

The gene B4GALNT2, with 12 Exons, is located on chromosome 11. This gene is associated with the production of the B4GALNT2 protein, which functions as a transferase in the final step of synthesizing the Sda antigen. In the Lacaune breed, a mutation known as FecLL (g.36938224T>A) in intron 7 of this gene has been found to have a positive effect on fertility and multiple births. Considering the effect of multiple births in the small ruminant industry, an investigation was conducted to explore the presence of the FecLl mutation and other potential mutation near its location in part of the intron 7 of B4GALNT2 gene. Two groups of multiple birth and single birth, each containing 20 shal ewes were selected for blood collection, DNA extraction and sanger sequencing, based on their reproductive histories of last 5 year of lambing records and the current breeding season. The sequence analysis revealed the absence of the FecLL mutation in the samples. However, three other mutations were identified: g.37129493 T>C, g.37129812 C>A, and g.37130289 T>A. No significant differences were observed between the two study groups regarding these mutations (P > 0.05). Based on these findings, it appears that the FecLL mutation may not be present in the Shal breed. However, due to the occurrence of the mutations in the intron and their potential low impact on the final protein, further investigation of the gene network and a larger sample size is recommended to explore other phenotypic associations and detect additional mutation.