Dataset Information

Duplex Detection of TP53 Arg72Pro and 16 bp Del/Ins Polymorphisms by a Simple Optimized PCR-RFLP Method.

ABSTRACT: BACKGROUND:The tumor suppressor gene (TP53) encodes p53, the central protein in the apoptotic pathway which has been shown to be of crucial importance in the development of cancers in addition to a variety of neurodegenerative disorders. Two most commonly studied polymorphisms that were shown to affect the biochemical functions of p53 protein are the exon 4 Arg72pro and Intron 3 16 bp Del/Ins polymorphisms. AIMS:The aim of the present work is to develop a new optimized method for the simultaneous detection of the two important polymorphisms in the TP53 gene in a single reaction. MATERIALS AND METHODS:The proposed method is based on amplification of a single PCR amplicon and the use of a unique restriction enzyme with restriction sites that facilitate simultaneous detection. RESULTS:The proposed method offers fast, economical, and simple simultaneous detection. Validation by methods commonly used in the literature showed perferct concordance in genotyping results. CONCLUSION:The proposed method can serve as an invaluable tool for the investigation of TP53 Arg72Pro-16 bp Del/Ins haplotype, and the combined effects of the two polymorphisms offering extreme ease and simplicity over the currently used methods which are based on two separate detections.

SUBMITTER: Lajin B

PROVIDER: S-EPMC3359431 | biostudies-literature | 2012 May

REPOSITORIES: biostudies-literature

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Duplex Detection of TP53 Arg72Pro and 16 bp Del/Ins Polymorphisms by a Simple Optimized PCR-RFLP Method.

Lajin B B Alachkar A A Alhaj Sakur A SA

North American journal of medical sciences 20120501 5

<h4>Background</h4>The tumor suppressor gene (TP53) encodes p53, the central protein in the apoptotic pathway which has been shown to be of crucial importance in the development of cancers in addition to a variety of neurodegenerative disorders. Two most commonly studied polymorphisms that were shown to affect the biochemical functions of p53 protein are the exon 4 Arg72pro and Intron 3 16 bp Del/Ins polymorphisms.<h4>Aims</h4>The aim of the present work is to develop a new optimized method for ...[more]

PMID: 22655279

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Project description:BackgroundBreast cancer, the most common tumor in women in Mali and worldwide has been linked to several risk factors, including genetic factors, such as the PIN3 16-bp duplication polymorphism of TP53. The aim of our study was to evaluate the role of the PIN3 16-bp duplication polymorphism in the susceptibility to breast cancer in the Malian population and to perform a meta-analysis to better understand the correlation with data from other populations.MethodsWe analyzed the PIN3 16-bp duplication polymorphism in blood samples of 60 Malian women with breast cancer and 60 healthy Malian women using PCR. In addition, we performed a meta-analysis of case-control study data from international databases, including Pubmed, Harvard University Library, Genetics Medical Literature Database, Genesis Library and Web of Science. Overall, odds ratio (OR) with 95% CI from fixed and random effects models were determined. Inconsistency was used to assess heterogeneity between studies and publication bias was estimated using the funnel plot.ResultsIn the studied Malian patients, a significant association of PIN3 16-bp duplication polymorphism with breast cancer risk was observed in dominant (A1A2 + A2A2 vs. A1A1: OR = 2.26, CI 95% = 1.08-4.73; P = 0.02) and additive (A2 vs. A1: OR = 1.87, CI 95% = 1.05-3.33; P = 0.03) models, but not in the recessive model (P = 0.38). In the meta-analysis, nineteen (19) articles were included with a total of 6018 disease cases and 4456 controls. Except for the dominant model (P = 0.15), an increased risk of breast cancer was detected with the recessive (OR = 1.46, 95% CI = 1.15-1.85; P = 0.002) and additive (OR = 1.11, 95% CI = 1.02-1.19; P = 0.01) models.ConclusionThe case-control study showed that PIN3 16-bp duplication polymorphism of TP53 is a significant risk factor for breast cancer in Malian women. These findings are supported by data from the meta-analysis carried out on different ethnic groups around the world.

Dataset Information

Duplex Detection of TP53 Arg72Pro and 16 bp Del/Ins Polymorphisms by a Simple Optimized PCR-RFLP Method.

Publications

Duplex Detection of TP53 Arg72Pro and 16 bp Del/Ins Polymorphisms by a Simple Optimized PCR-RFLP Method.

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