BACKGROUND Toll-like receptors (TLRs) have been suggested to be associated with the development of AITD. METHODS Fifteen single-nucleotide polymorphisms in 7 TLR genes were analyzed in 104 Korean children (girls = 86, boys = 18) with AITD (Hashimoto disease (HD) = 44, Graves' disease (GD) = 60, thyroid-associated ophthalmopathy (TAO) = 29, and non-TAO = 31) with 183 controls. RESULTS GD sho...

Objective(s): FOXP3 gene is an X-linked gene that encodes FOXP3 protein, an essential transcription factor in CD4+CD25+FOXP3+ regulatory T (Treg) cells.  We aimed, in the present study, to investigate the association of two FOXP3 polymorphisms, -2383 C/T (rs3761549) and IVS9+459 T/C (rs2280883), with lung cancer. Materials and Methods:  In a case-control study we analyzed genotypes and alleles ...

Abstract Genotyping individuals using forensic or non-invasive samples such as hair fecal increases the risk of allelic amplification failure (dropout) due to low quality and quantity DNA. One way decrease genotyping errors is increase number replicates per sample. Here, we have developed software SNP+ estimate dropout probability subsequent required obtain reliable genotype with 95%. Moreover,...

Publicly available single nucleotide polymorphism (SNP) allele frequencies are an important resource for the selection of genetic markers that may be most useful for gene mapping and association studies. Data mining these allele frequencies through disparate public databases and Websites is time consuming and can result in inconsistent findings. We have developed a web-based software tool, Freq...

The design and interpretation of genetic association studies depends on the relationship between the genotyped variants and the underlying functional variant, often parameterized as the squared correlation or r(2) measure of linkage disequilibrium between two loci. While it has long been recognized that placing a constraint on ther(2) between two loci also places a constraint on the difference ...

HLA-DRB1 allele frequencies of 28 myasthenia gravis (MG) patients, residents of southern Iranian provinces, were studied using PCR-SSP method. The control group consisted of 100 healthy individuals of the same ethnic group. The allele HLA-DRB1 * 16 (RR= 2.04, p= 0.028) was found to be significantly increased in MG patients compared to the control group, whereas HLADRB1 * 15(RR= 0.17 p= 0.0...

The advent of accessible ancient DNA technology now allows the direct ascertainment of allele frequencies in ancestral populations, thereby enabling the use of allele frequency time series to detect and estimate natural selection. Such direct observations of allele frequency dynamics are expected to be more powerful than inferences made using patterns of linked neutral variation obtained from m...

The transcription of tumor mutations from DNA into RNA has implications for biology, epigenetics and clinical practice. It is not clear if mutations are in general transcribed and, if so, at what proportion to the wild-type allele. Here, we examined the correlation between DNA mutation allele frequency and RNA mutation allele frequency. We sequenced the exome and transcriptome of tumor cell lin...

The advent of accessible ancient DNA technology now allows the direct ascertainment of allele frequencies in ancestral populations, thereby enabling the use of allele frequency time series to detect and estimate natural selection. Such direct observations of allele frequency dynamics are expected to be more powerful than inferences made using patterns of linked neutral variation obtained from m...