Frequencies of CGT52TGT, GGC54GAC and GGA57GAA point mutations in MBL gene in Chinese Uyghur population / 南方医科大学学报
Journal of Southern Medical University
;
(12): 1764-1767, 2006.
Article
in Chinese
| WPRIM
| ID: wpr-232787
ABSTRACT
<p><b>OBJECTIVE</b>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.</p><p><b>METHODS</b>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.</p><p><b>RESULTS</b>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.</p><p><b>CONCLUSION</b>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.</p>
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Blood
/
Base Sequence
/
China
/
Polymerase Chain Reaction
/
Exons
/
Point Mutation
/
Mannose-Binding Lectin
/
Gene Frequency
/
Genetics
/
Genotype
Limits:
Adolescent
/
Adult
/
Female
/
Humans
/
Male
Country/Region as subject:
Asia
Language:
Chinese
Journal:
Journal of Southern Medical University
Year:
2006
Type:
Article
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