Mistyping ACE heterozygotes.

Vedapuri Shanmugam; K W Sell; B K Saha

doi:10.1101/gr.3.2.120

October 1, 1993Genome ResearchOpen Access

Mistyping ACE heterozygotes.

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Key Points

This research investigates the phenomenon of mistyping ACE genotypes, specifically ID as DD, impacting myocardial infarction risk predictions.
Examined PCR amplification conditions for ACE genotypes.
Tested the effect of adding 5% dimethylsulfoxide to improve amplification of the I allele.
Developed a new PCR protocol with an additional sense primer to accurately identify ID heterozygotes.
Inclusion of 5% DMSO significantly improved the amplification of the I allele in ID heterozygotes.
ID heterozygotes amplified faithfully with DMSO, reducing mistyping occurrences.
An additional PCR protocol with new primers resolved mistyping issues during genotype identification.

Structured PICO

P

Population

Genomic DNA from a large pedigree used for genotyping human angiotensin I-converting enzyme (ACE) insertion/deletion (I/D) polymorphism

I

Intervention

PCR amplification with 5% dimethylsulfoxide (DMSO) or a new sense primer

C

Comparator

Standard PCR amplification without DMSO

O

Outcome

Accurate identification of ACE genotypes (II, DD, ID) without mistyping ID as DD

Adding 5% DMSO to PCR mixtures prevents the mistyping of ACE ID heterozygotes as DD homozygotes, which is critical for accurate risk assessment since the DD genotype is associated with higher myocardial infarction risk.

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Implication

May reduce ACE genotyping errors affecting MI risk assessment; leaves open standardization of PCR protocols in cardiovascular research.

Abstract

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Cite This Study

Shanmugam et al. (1993) studied this question.

synapsesocial.com/papers/6a701fab5d37378ac1dd319b https://doi.org/10.1101/gr.3.2.120

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Mistyping ACE heterozygotes.

Key Points

Structured PICO

Ask about this paper

Implication

Abstract

Discussion

Cite This Study

Mistyping ACE heterozygotes.

Key Points

Structured PICO

Ask about this paper

Implication

Abstract

Discussion

Cite This Study

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