An Improved PCR-RFLP Assay for the Detection of a Polymorphism of PLIN1 Gene. 2016

Xiaoran Duan, and Chunyang Li, and Tuanwei Wang, and Xiaolei Feng, and Liuxin Cui, and Wu Yao, and Wei Wang

BACKGROUND In recent research, it has been shown that there have been variants of rs894160 within the PLINI gene which have been associated with obesity, type 2 diabetes, and other diseases. But the isoschizomers such as the Mn1I enzyme required for the detection of this polymorphism are expensive. METHODS The study used an improved PCR-RFLP method with mismatched base for detection of the single nucleotide polymorphism rs894160. RESULTS After detecting 550 Chinese Han individuals, the genotype frequencies were 26.0% for AA, 50.0% for AG, and 24.0% for GG. The allelic frequencies were 51.0% for A and 49.0% for G. The PCR results were confirmed by DNA sequencing. The chi2 test showed the genotype and allele frequencies of PLIN1 do not deviate from Hardy-Weinberg equilibrium, and the sequences of amplified products were consistent with the one published in Genbank with the exception of mismatched base. CONCLUSIONS Based on the PCR with mismatched primers we designed, the PLIN1 polymorphisms could be identified effectively.

UI MeSH Term Description Entries
D010750 Phosphoproteins Phosphoprotein
D011237 Predictive Value of Tests In screening and diagnostic tests, the probability that a person with a positive test is a true positive (i.e., has the disease), is referred to as the predictive value of a positive test; whereas, the predictive value of a negative test is the probability that the person with a negative test does not have the disease. Predictive value is related to the sensitivity and specificity of the test. Negative Predictive Value,Positive Predictive Value,Predictive Value Of Test,Predictive Values Of Tests,Negative Predictive Values,Positive Predictive Values,Predictive Value, Negative,Predictive Value, Positive
D012150 Polymorphism, Restriction Fragment Length Variation occurring within a species in the presence or length of DNA fragment generated by a specific endonuclease at a specific site in the genome. Such variations are generated by mutations that create or abolish recognition sites for these enzymes or change the length of the fragment. RFLP,Restriction Fragment Length Polymorphism,RFLPs,Restriction Fragment Length Polymorphisms
D002352 Carrier Proteins Proteins that bind or transport specific substances in the blood, within the cell, or across cell membranes. Binding Proteins,Carrier Protein,Transport Protein,Transport Proteins,Binding Protein,Protein, Carrier,Proteins, Carrier
D002681 China A country spanning from central Asia to the Pacific Ocean. Inner Mongolia,Manchuria,People's Republic of China,Sinkiang,Mainland China
D005787 Gene Frequency The proportion of one particular in the total of all ALLELES for one genetic locus in a breeding POPULATION. Allele Frequency,Genetic Equilibrium,Equilibrium, Genetic,Allele Frequencies,Frequencies, Allele,Frequencies, Gene,Frequency, Allele,Frequency, Gene,Gene Frequencies
D005838 Genotype The genetic constitution of the individual, comprising the ALLELES present at each GENETIC LOCUS. Genogroup,Genogroups,Genotypes
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000070778 Perilipin-1 A lipid droplet protein that is expressed primarily by ADIPOCYTES of WHITE ADIPOSE TISSUE and BROWN ADIPOSE TISSUE. It co-localizes with MACROPHAGES and FOAM CELLS of artherosclerotic lesions and stabilizes LIPID DROPLETS by inhibiting HORMONE SENSITIVE LIPASE. It may also protect TRIGLYCERIDES against hydrolysis within the PLASMA MEMBRANE and modulate CHOLESTEROL ESTER HYDROLASE activity. PERI Protein,Perilipin,Perilipin A Protein,Perilipin B Protein,Perilipin Protein,Plin Protein,Perilipin 1,Protein, PERI,Protein, Perilipin,Protein, Perilipin A,Protein, Perilipin B,Protein, Plin
D016009 Chi-Square Distribution A distribution in which a variable is distributed like the sum of the squares of any given independent random variable, each of which has a normal distribution with mean of zero and variance of one. The chi-square test is a statistical test based on comparison of a test statistic to a chi-square distribution. The oldest of these tests are used to detect whether two or more population distributions differ from one another. Chi-Square Test,Chi Square Distribution,Chi Square Test,Chi-Square Distributions,Chi-Square Tests,Distribution, Chi-Square,Distributions, Chi-Square,Test, Chi-Square,Tests, Chi-Square

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