Polymorphisms in mannose-binding lectin (MBL) gene and their association with MBL protein levels in serum in the Hu sheep

摘要

Mannose-binding lectin (MBL) is the archetypical pathogen recognition protein of the innate immune defence. In humans, three frequently occurring single nucleotide polymorphisms (SNPs) in the coding region of MBL gene are associated with the abnormal polymerization, decreased serum concentration and strongly impaired function of MBL protein. To understand whether or not SNPs in MBL gene are associated with serum concentration of MBL in sheep, we investigated 105 individuals of the Hu sheep by PCR single-strand conformation polymorphism (SSCP) analysis, DNA sequencing, and enzyme-linked immunosorbent assay. SSCP analyses of PCR amplicons from a 194-bp section of the exon-I region of the MBL gene revealed four patterns: A, B, C and D. In comparison with the sequences of the full-length MBL gene of sheep (GenBank accession numbers FJ977629 and AM933378; reference sequence hereafter), pattern A has a 3-bp deletion, a 6-bp deletion and 42 SNPs. Pattern B has 3 SNPs, pattern C has 2 SNPs, whereas pattern D is identical to the reference sequence. Twenty-four of the 47 SNPs of the four patters are synonymous whereas the other 23 SNPs are non-synonymous. The two deletions in the pattern A result in deletions of amino acids but there are no frame shifts in the putative MBL protein. The concentration of MBL protein in serum ranges from 1571 to 3657I14g/L in the Hu sheep. Our statistic analyses showed that patterns A and B are associated with reduced MBL protein level in serum, whereas pattern C is associated with increased MBL protein level in serum (P <0.05) in the Hu sheep.