A single polymerase chain reaction-based protocol for detecting normal and expanded alleles in myotonic dystrophy

Massimo Gennarelli; Marco Pavoni; Paola Amicucci; Giuseppe Novelli; Bruno Dallapiccola

doi:10.1097/00019606-199806000-00002

A single polymerase chain reaction-based protocol for detecting normal and expanded alleles in myotonic dystrophy

Massimo Gennarelli, Marco Pavoni, Paola Amicucci, Giuseppe Novelli, Bruno Dallapiccola

Research output: Contribution to journal › Article › peer-review

Abstract

The myotonic dystrophy (DM) expansion varies from 50 to 4000 CTG repeats in the 3' untranslated region of the DMPK gene. Direct analysis by Southern blot, after restriction enzyme digestion of genomic DNA, is the method of choice for studying the DM mutation. A long polymerase chain reaction (PCR)formatted protocol, which involved a single genomic in vitro amplification followed by high concentration agarose gel electrophoresis and oligo-specific hybridization, was used to amplify normal alleles and DM alleles in all examined ranges of expansion (up to 3,700 CTGs) starting from a small amount of genomic DNA (≥15 pg). This method is quick, sensitive, and reproducible and reduces the cost of diagnostic laboratory processing.

Original language	English
Pages (from-to)	135-137
Number of pages	3
Journal	Diagnostic Molecular Pathology
Volume	7
Issue number	3
DOIs	https://doi.org/10.1097/00019606-199806000-00002
Publication status	Published - 1998

Keywords

CTG repeats
Long PCR
Myotonic dystrophy

ASJC Scopus subject areas

Pathology and Forensic Medicine

Access to Document

10.1097/00019606-199806000-00002

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title = "A single polymerase chain reaction-based protocol for detecting normal and expanded alleles in myotonic dystrophy",

abstract = "The myotonic dystrophy (DM) expansion varies from 50 to 4000 CTG repeats in the 3' untranslated region of the DMPK gene. Direct analysis by Southern blot, after restriction enzyme digestion of genomic DNA, is the method of choice for studying the DM mutation. A long polymerase chain reaction (PCR)formatted protocol, which involved a single genomic in vitro amplification followed by high concentration agarose gel electrophoresis and oligo-specific hybridization, was used to amplify normal alleles and DM alleles in all examined ranges of expansion (up to 3,700 CTGs) starting from a small amount of genomic DNA (≥15 pg). This method is quick, sensitive, and reproducible and reduces the cost of diagnostic laboratory processing.",

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AU - Pavoni, Marco

AU - Amicucci, Paola

AU - Novelli, Giuseppe

AU - Dallapiccola, Bruno

PY - 1998

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AB - The myotonic dystrophy (DM) expansion varies from 50 to 4000 CTG repeats in the 3' untranslated region of the DMPK gene. Direct analysis by Southern blot, after restriction enzyme digestion of genomic DNA, is the method of choice for studying the DM mutation. A long polymerase chain reaction (PCR)formatted protocol, which involved a single genomic in vitro amplification followed by high concentration agarose gel electrophoresis and oligo-specific hybridization, was used to amplify normal alleles and DM alleles in all examined ranges of expansion (up to 3,700 CTGs) starting from a small amount of genomic DNA (≥15 pg). This method is quick, sensitive, and reproducible and reduces the cost of diagnostic laboratory processing.

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