[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.


CONCLUSIONS
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.
Zhong
Cheng-quan
CQ
Department of Immunology, Southern Medical University, Guangzhou 510515, China.
Yu
Xin-pei
XP
Wang
Fang-yong
FY
Kurexijiang
Tuohuti
T
Chen
Zheng-liang
ZL
D000293:Adolescent; D000328:Adult; D001483:Base Sequence; D002681:China; D005091:Exons / Q000235:genetics; D005260:Female; D005787:Gene Frequency; D005838:Genotype; D006801:Humans; D008297:Male; D037601:Mannose-Binding Lectin / Q000097:blood / Q000235:genetics*; D008875:Middle Aged; D017354:Point Mutation; D016133:Polymerase Chain Reaction
D037601:Mannose-Binding Lectin