[Frequencies of CGT52TGT, GGC54GAC and GGA57GAA point mutations in MBL gene in Chinese Uyghur population].

Objective To investigate the frequencies of three point mutations,CGT52TGT,GGC54GAC and GGA57GAA,in exon 1 of mannan-binding lectin(MBL)structural gene in Chinese Uyghur population.Methods Blood samples were collected from a Uyghur population in Xinjiang Uyghur Autonomous Region,and the genomic DNA was extracted from the leucocytes and the target gene fragment amplified by PCR.The three point mutations in exon 1 of MBL gene were detected by fluorogenic probe hybridization technique with visual monitoring.Results In 95 Uyghur individuals,2 were identified as homozygous for codon 54 mutations,28 were heterozygous for codon 54 mutation,and no CGT52TGT and GGA57GAA point mutations were found.Conclusion The frequencies of CGT52TGT,GGC54GAC and GGA57GAA mutant alleles in exon 1 of MBL structural gene are 0,0.168 and 0 respectively in the Chinese Uyghur population.