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April 10, 2002Human Mutation

The low-density oligonucleotide probe array successfully detected 12 different heterozygous mutations across four genes, demonstrating robustness to variations in mutation position and target-DNA size (up to 800 bp amplicons).

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Why the study?

Can a low-density DNA microarray reliably detect known mutations associated with familial hypertrophic cardiomyopathy?

Population

DNA samples with 12 different heterozygous mutations associated with familial hypertrophic cardiomyopathy

Design

Preclinical

Authors

SWStephan WaldmüllerPFPetra FreundSMSimon Mauch

Discussion

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Overview

Supports preclinical feasibility for HCM mutation arrays; leaves open clinical translation and validation in patients.

Structured PICO

Can a low-density DNA microarray reliably detect known mutations associated with familial hypertrophic cardiomyopathy?

P
Population
DNA samples with 12 different heterozygous mutations (in four different genes) associated with familial hypertrophic cardiomyopathy (HCM)
I
Intervention
Low-density oligonucleotide probe array (DNA microarray) on glass slides
O
Outcome
Detection of known HCM-associated mutations

A low-density DNA microarray is a feasible, robust, and potentially automatable tool for pre-screening patients for known hypertrophic cardiomyopathy mutations.

Cite This Study

Waldmüller et al. (2002) studied this question.

synapsesocial.com/papers/6a20cb2de3e6025b589a891chttps://doi.org/10.1002/humu.10074
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