[Correlation between point mutation frequency of MBL gene exon I and plasma MBL concentration in healthy Mongolians].

Aim: To investigate the point mutation at codon 54 of mannose binding lectin (MBL) gene, detect the plasma MBL level, and analyze the correlation between the gene mutation frequency and plasma MBL concentration.

Methods: A method for detecting MBL gene point mutation (PCR-RFLP) was established with self-designed primers according to MBL genomic sequence. The plasma MBL concentration was detected by MBL Oliger ELISA kit.

Results: The PCR-RFLP for detecting the point mutation at codon 54 of MBL gene was established. Frequency of point mutation at codon 54 of MBL gene in healthy Mongolians was 0.18. The plasma MBL concentration was (2.53+/-1.96)mg/L. There was negative correlation between plasma MBL concentration and MBL gene mutation frequency in Mongolians (r = -0.641).

Conclusion: The established method of PCR-RFLP was proved to have high specificity, excellent reproducibility and high sensitivity. The relationship between frequency of mutation at codon 54 of MBL gene and the plasma MBL concentration in healthy Mongolians is negatively correlated.