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A Simple PCR–RFLP Method for Genetic Phase Determination in Compound Heterozygotes

Overview of attention for article published in Frontiers in Genetics, January 2012
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Title
A Simple PCR–RFLP Method for Genetic Phase Determination in Compound Heterozygotes
Published in
Frontiers in Genetics, January 2012
DOI 10.3389/fgene.2011.00108
Pubmed ID
Authors

Rodney T. Perry, Harsh Dwivedi, Brahim Aissani

Abstract

When susceptibility to diseases is caused by cis-effects of multiple alleles at adjacent polymorphic sites, it may be difficult to assess with confidence the genetic phase and identify individuals carrying the risk haplotype. Experimental assessment of genetic phase is still challenging and most population studies use statistical approaches to infer haplotypes given the observed genotypes. While these statistical approaches are powerful and have been proven very useful in large scale genetic population studies, they may be prone to errors in studies with small sample size, especially in the presence of compound heterozygotes. Here, we describe a simple and novel approach using the popular PCR-RFLP based strategy to assess the genetic phase in compound heterozygotes. We apply this method to two extensively studied SNPs in two clustered immune-related genes: The -308 (G > A) and the +252 (A > G) SNPs of the tumor necrosis factor (TNF) alpha and the lymphotoxin alpha (LTA) genes, respectively. Using this method, we successfully determined the genetic phase of these two SNPs in known compound heterozygous individuals and in every sample tested. We show that the A allele of TNF -308 is carried on the same chromosome as the LTA +252(G) allele.

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Mendeley readers

Mendeley readers

The data shown below were compiled from readership statistics for 16 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Unknown 16 100%

Demographic breakdown

Readers by professional status Count As %
Student > Bachelor 5 31%
Student > Master 2 13%
Lecturer > Senior Lecturer 1 6%
Other 1 6%
Student > Doctoral Student 1 6%
Other 3 19%
Unknown 3 19%
Readers by discipline Count As %
Biochemistry, Genetics and Molecular Biology 5 31%
Agricultural and Biological Sciences 3 19%
Medicine and Dentistry 2 13%
Arts and Humanities 1 6%
Unspecified 1 6%
Other 0 0%
Unknown 4 25%
Attention Score in Context

Attention Score in Context

This research output has an Altmetric Attention Score of 1. This is our high-level measure of the quality and quantity of online attention that it has received. This Attention Score, as well as the ranking and number of research outputs shown below, was calculated when the research output was last mentioned on 14 January 2012.
All research outputs
#20,165,369
of 22,675,759 outputs
Outputs from Frontiers in Genetics
#8,510
of 11,737 outputs
Outputs of similar age
#221,176
of 244,088 outputs
Outputs of similar age from Frontiers in Genetics
#195
of 255 outputs
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