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BMC Medical Genetics

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Open Access 01-12-2002 | Research article

SNP analysis of the inter-alpha-trypsin inhibitor family heavy chain-related protein (IHRP) gene by a fluorescence-adapted SSCP method

Authors: Teruaki Tozaki, Nam-Ho Choi-Miura, Matsuo Taniyama, Masahiko Kurosawa, Motowo Tomita

Published in: BMC Medical Genetics | Issue 1/2002

Abstract

Background

Single-nucleotide polymorphisms (SNPs) are considered to be useful polymorphic markers for genetic studies of polygenic traits. Single-stranded conformational polymorphism (SSCP) analysis has been widely applied to detect SNPs, including point mutations in cancer and congenital diseases. In this study, we describe an application of the fluorescent labeling of PCR fragments using a fluorescent-adapted primer for SSCP analysis as a novel method.

Methods

Single-nucleotide polymorphisms (SNPs) of the inter-alpha-trypsin inhibitor family heavy chain-related protein (IHRP) gene were analyzed using a fluorescence-adapted SSCP method. The method was constructed from two procedures: 1) a fluorescent labeling reaction of PCR fragments using fluorescence-adapted primers in a single tube, and 2) electrophoresis on a non-denaturing polyacrylamide gel.

Results

This method was more economical and convenient than the single-stranded conformational polymorphism (SSCP) methods previously reported in the detection of the labeled fragments obtained. In this study, eight SNPs of the IHRP gene were detected by the fluorescence-adapted SSCP. One of the SNPs was a new SNP resulting in an amino acid substitution, while the other SNPs have already been reported in the public databases. Six SNPs of the IHRP were associated with two haplotypes.

Conclusions

The fluorescence-adapted SSCP was useful for detecting and genotyping SNPs.

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The pre-publication history for this paper can be accessed here:http://www.biomedcentral.com/1471-2350/3/6/prepub

Title: SNP analysis of the inter-alpha-trypsin inhibitor family heavy chain-related protein (IHRP) gene by a fluorescence-adapted SSCP method
Authors: Teruaki Tozaki
Nam-Ho Choi-Miura
Matsuo Taniyama
Masahiko Kurosawa
Motowo Tomita
Publication date: 01-12-2002
Publisher: BioMed Central
Published in: BMC Medical Genetics / Issue 1/2002
Electronic ISSN: 1471-2350
DOI: https://doi.org/10.1186/1471-2350-3-6

Keynote webinar | Spotlight on medication adherence

Springer Medicine

SNP analysis of the inter-alpha-trypsin inhibitor family heavy chain-related protein (IHRP) gene by a fluorescence-adapted SSCP method

Abstract

Background

Methods

Results

Conclusions

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Abstract

Background

Methods

Results

Conclusions

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