Subject(s)
Crowdsourcing , DNA/physiology , Genetic Testing , Genomics/methods , Patient Portals , Commerce/trends , Crowdsourcing/economics , Crowdsourcing/methods , Crowdsourcing/trends , Databases, Genetic/trends , Datasets as Topic/economics , Datasets as Topic/supply & distribution , Genetic Association Studies/economics , Genetic Association Studies/methods , Genetic Association Studies/trends , Genetic Testing/economics , Genetic Testing/methods , Genetic Testing/trends , Genomics/economics , Genomics/trends , High-Throughput Screening Assays/economics , High-Throughput Screening Assays/methods , High-Throughput Screening Assays/trends , Humans , Patient Portals/supply & distribution , Patient Portals/trends , Personal Autonomy , Phenotype , Precision Medicine/economics , Precision Medicine/methods , Precision Medicine/trends , Sequence Analysis, DNA/economics , Sequence Analysis, DNA/methods , Sequence Analysis, DNA/trends , User-Computer InterfaceABSTRACT
It has been shown that the single nucleotide polymorphism (SNP) of the rs2735940 site in the human telomerase reverse transcriptase (hTERT) gene is associated with increased cancer risk. The traditional method to detect SNP genotypes is polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). However, there is a limitation to utilizing PCR-RFLP due to a lack of proper restriction enzyme sites at many polymorphic loci. This study used an improved PCR-RFLP method with a mismatched base for detection of the SNP rs2735940. A new restriction enzyme cutting site was created by created restriction site PCR (CRS-PCR), and in addition, the restriction enzyme MspI for CRS-PCR was cheaper than other enzymes. We used this novel assay to determine the allele frequencies in 552 healthy Chinese Han individuals, and found the allele frequencies to be 63% for allele C and 37% for allele T In summary, the modified PCR-RFLP can be used to detect the SNP of rs2735940 with low cost and high efficiency.
Subject(s)
Genetic Predisposition to Disease , Genotyping Techniques , Neoplasms/genetics , Polymorphism, Single Nucleotide , Telomerase/genetics , Adolescent , Adult , Alleles , Amplified Fragment Length Polymorphism Analysis/economics , Asian People , China , Costs and Cost Analysis , Deoxyribonuclease HpaII/economics , Deoxyribonuclease HpaII/metabolism , Female , Gene Frequency , Genetic Association Studies/economics , Genotyping Techniques/economics , Humans , Male , Middle Aged , Neoplasms/metabolism , Polymerase Chain Reaction/economics , Telomerase/metabolism , Time Factors , Young AdultSubject(s)
Information Dissemination , Mutation/genetics , Rare Diseases/diagnosis , Rare Diseases/genetics , Child, Preschool , Databases, Genetic , Genetic Association Studies/economics , Genetic Testing/economics , Humans , Infant , Male , Phenotype , Rare Diseases/economics , Transcription Factors/geneticsABSTRACT
Complex diseases result from contributions of multiple genes that act in concert through pathways. Here we present a method to prioritize novel candidates of disease-susceptibility genes depending on the biological similarities to the known disease-related genes. The extent of disease-susceptibility of a gene is prioritized by analyzing seven features of human genes captured in H-InvDB. Taking rheumatoid arthritis (RA) and prostate cancer (PC) as two examples, we evaluated the efficiency of our method. Highly scored genes obtained included TNFSF12 and OSM as candidate disease genes for RA and PC, respectively. Subsequent characterization of these genes based upon an extensive literature survey reinforced the validity of these highly scored genes as possible disease-susceptibility genes. Our approach, Prioritization ANalysis of Disease Association (PANDA), is an efficient and cost-effective method to narrow down a large set of genes into smaller subsets that are most likely to be involved in the disease pathogenesis.
