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


CONCLUSIONS
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.
Jia
Tian-jun
TJ
Center Lab., Zhangjiakou Medical College, Zhangjiakou 075029, China. master123456cn@Yahoo.com
Li
Ping
P
Zhang
Shu-min
SM
Ji
Jian-jun
JJ
Zhao
Tie-jun
TJ
D044466:Asian People; D002681:China; D003062:Codon / Q000235:genetics; D005091:Exons / Q000235:genetics; D005787:Gene Frequency; D005838:Genotype; D006801:Humans; D037601:Mannose-Binding Lectin / Q000097:blood / Q000235:genetics*; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length
D003062:Codon; D037601:Mannose-Binding Lectin