Premium
Detection of mosaicism for the polymorphic variants in the 5′‐ UTR of h OGG 1 by cloning and sequence analysis and pyrosequencing
Author(s) -
Cao Lili,
Li Tianfeng,
Zhu Yanbei,
Zhou Wei,
Guo Wenwen,
Cai Zhenming,
Xie Yuan,
He Xuan,
Li Xinxiu,
Zhu Dalong,
Wang Yaping
Publication year - 2013
Publication title -
electrophoresis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.666
H-Index - 158
eISSN - 1522-2683
pISSN - 0173-0835
DOI - 10.1002/elps.201200562
Subject(s) - pyrosequencing , somatic cell , biology , single nucleotide polymorphism , genetics , cloning (programming) , allele , microbiology and biotechnology , untranslated region , gene , mutant , snp , mutation , genotype , messenger rna , programming language , computer science
Mosaicism refers to the presence of genetically distinct cell lines within an organism or a tissue. Somatic mosaicism exists in distinct populations of somatic cells and commonly arises as a result of somatic mutations, mainly in early embryonic development. SNPs are important markers that distinguish between different individuals in heterogeneous biological samples and contribute greatly to disease risk association studies. In this work, we investigated the relationship between the functional variants in the 5′‐ UTR of the h OGG 1 gene and the risk of type 2 diabetes. Upon detection of the polymorphisms c.‐53G>C, c.‐23A>G, and c.‐18G>T in the h OGG 1 gene, we found that mosaicism was present in 3/28 (10.71%), 7/51 (13.73%), and 1/44 (2.27%) patients respectively, who were carriers of these single nucleotide variations, by cloning and sequence analysis and pyrosequencing. Statistical analysis showed that the frequency of the variation c.‐23A>G in the h OGG 1 5′‐ UTR in type 2 diabetic patients was significantly higher than that in healthy controls. However, sequencing of the mutant alleles in mosaic individuals showed weak peaks that may affect detection of the SNP s and impair association‐based investigations.