Investigation of three single-nucleotide polymorphisms (1252 G>A, 2534 G>A, and 2569 T>C) of the MBL1 gene in Anatolian Buffaloes

Aksel E. G., Akyüz B.

TURKISH JOURNAL OF VETERINARY AND ANIMAL SCIENCES, vol.47, no.6, pp.529-535, 2023 (SCI-Expanded)

  • Publication Type: Article / Article
  • Volume: 47 Issue: 6
  • Publication Date: 2023
  • Doi Number: 10.55730/1300-0128.4322
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus, Academic Search Premier, CAB Abstracts, Veterinary Science Database, TR DİZİN (ULAKBİM)
  • Page Numbers: pp.529-535
  • Erciyes University Affiliated: Yes


It has been reported that since the MBL gene is involved in the first step of infection and inflammation processes, it may be associated with susceptibility to bacterial and viral diseases in living organisms. In this study, it was aimed to determine the genotypic variation of Anatolian buffaloes in terms of three (1252G>A, 2534 G>A, and 2569 T>C) single nucleotide polymorphisms (SNPs) within the MBL-1 gene. For this purpose, 103 Anatolian buffaloes were genotyped for relevant SNPs by PCR-RFLP process. The allele and genotype frequencies of the examined samples were determined, and the population was examined for Hardy-Weinberg (H-W) equilibrium constant with chi-square goodness of fit test. According to the obtained results, the samples were dimorphic for 1252 G>A coded SNPs and polymorphic in terms of other SNP. In addition, it was determined that the examined samples were in H-W balance concerning the 1252 G>A coded SNP, but they were not in H-W balance concerning the 2534 G>A and 2569 T>C coded SNPs. In previous studies in cattle, the existence of a relationship between 2534 G>A SNP and resistance to mastitis has been reported. In this study, it was also determined that Anatolian buffaloes examined for 2534 G>A coded SNP were polymorphic and the GG genotype was the most common (74.76%) genotype. Therefore, it was considered that further studies should be conducted to investigate the phenotype-genotype relationship with the MBL-1 gene, for resistance to diseases, particularly mastitis, that cause significant economic losses.