title: Detection of mosaicism for the polymorphic variants in the 5'-UTR of hOGG1 by cloning and sequence analysis and pyrosequencing.
abstract: 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 hOGG1 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 hOGG1 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 hOGG1 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 SNPs and impair association-based investigations.
authors: Department of Medical Genetics, Nanjing University School of Medicine, Nanjing, Jiangsu, PR China.
authors: Lili
authors: L
authors: Cao
authors: Tianfeng
authors: T
authors: Li
authors: Yanbei
authors: Y
authors: Zhu
authors: Wei
authors: W
authors: Zhou
authors: Wenwen
authors: W
authors: Guo
authors: Zhenming
authors: Z
authors: Cai
authors: Yuan
authors: Y
authors: Xie
authors: Xuan
authors: X
authors: He
authors: Xinxiu
authors: X
authors: Li
authors: Dalong
authors: D
authors: Zhu
authors: Yaping
authors: Y
authors: Wang
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D003001:Cloning, Molecular; D045647:DNA Glycosylases / Q000235:genetics*; D003924:Diabetes Mellitus, Type 2 / Q000235:genetics; D005260:Female; D005787:Gene Frequency; D006801:Humans; D008297:Male; D008875:Middle Aged; D009030:Mosaicism; D020641:Polymorphism, Single Nucleotide; D017422:Sequence Analysis, DNA
chemical_list: D045647:DNA Glycosylases; C479058:oxoguanine glycosylase 1, human