Functional analysis of the single nucleotide polymorphisms in the PRKCZ gene / 中国医学科学院学报
Acta Academiae Medicinae Sinicae
; (6): 471-473, 2002.
Article
in Zh
| WPRIM
| ID: wpr-350082
Responsible library:
WPRO
ABSTRACT
<p><b>OBJECTIVE</b>To study the function of 5 single nucleotide polymorphisms (SNPs) of the PRKCZ gene, a susceptibility gene for type 2 diabetes in Han population of North China, in the pathogenesis of the disease.</p><p><b>METHODS</b>Bioinformatic methods and reporter gene activity determination were used to analyze the function of the 5 SNPs.</p><p><b>RESULTS</b>The reporter gene activities of different alleles of 2 SNPs, rs427811 and rs809912, were obviously different, which implies that these 2 SNPs might be susceptibility loci of the disease.</p><p><b>CONCLUSION</b>The PRKCZ gene is further confirmed to be a susceptibility gene for type 2 diabetes in Han population of North China. Two SNPs in the gene play a role in the pathogenesis of the disease by affecting the expression level of PRKCZ gene.</p>
Full text:
1
Database:
WPRIM
Main subject:
Protein Kinase C
/
Ethnicity
/
Genetic Predisposition to Disease
/
Polymorphism, Single Nucleotide
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Asian People
/
Diabetes Mellitus, Type 2
/
Alleles
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Protein Kinase C-delta
/
Genetics
Limits:
Humans
Language:
Zh
Journal:
Acta Academiae Medicinae Sinicae
Year:
2002
Document type:
Article