A Novel SNaPshot Assay to Detect Genetic Mutations Related to Iron Metabolism

被引：11

作者：

Bertoncini, Stefania ^{[2
]}

Blanco-Rojo, Ruth ^{[3
]}

Baeza, Carlos ^{[1
]}

Arroyo-Pardo, Eduardo ^{[1
]}

Pilar Vaquero, Maria ^{[3
]}

Maria Lopez-Parra, Ana ^{[1
]}

机构：

[1] Univ Complutense Madrid, Fac Med, Dept Toxicol & Hlth Legislat, E-28040 Madrid, Spain

[2] Univ Pisa, Dept Biol, Anthropol Unit, Pisa, Italy

[3] Spanish Natl Res Council CSIC, ICTAN, Dept Metab & Nutr, Madrid, Spain

来源：

GENETIC TESTING AND MOLECULAR BIOMARKERS | 2011年 / 15卷 / 03期

关键词：

HARDY-WEINBERG EQUILIBRIUM; GENOME; HEMOCHROMATOSIS; ASSOCIATION; CONSORTIUM; STRATEGY; BLOCKS; PLASMA; WOMEN;

D O I：

10.1089/gtmb.2010.0140

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

The minisequencing method is a cost-effective tool to study single-nucleotide polymorphisms in human disease. For this reason, a novel polymerase chain reaction multiplex SNaPshot reaction has been developed that targets 10 autosomal mutations in genes, or regions near to them, reported to be involved in iron metabolism: TMPRSS6, TF, and HFE. To validate this multiplex, 284 samples from unrelated women from the Spanish population were tested at a fertile age. The novel polymerase chain reaction multiplex SNaPshot reaction developed is a very simple, sensitive, and low-cost approach, and therefore will be useful as a tool of clinic diagnosis in iron metabolism alterations and to replicate results obtained from genome-wide linkage analysis.

引用

页码：173 / 179

页数：7

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