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.
Artigo
em Chinês
| 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>
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Sangue
/
Sequência de Bases
/
China
/
Reação em Cadeia da Polimerase
/
Éxons
/
Mutação Puntual
/
Lectina de Ligação a Manose
/
Frequência do Gene
/
Genética
/
Genótipo
Limite:
Adolescente
/
Adulto
/
Feminino
/
Humanos
/
Masculino
País/Região como assunto:
Ásia
Idioma:
Chinês
Revista:
Journal of Southern Medical University
Ano de publicação:
2006
Tipo de documento:
Artigo
Similares
MEDLINE
...
LILACS
LIS