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 | |
| Publication status | Published - 1998 |
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Keywords
- CTG repeats
- Long PCR
- Myotonic dystrophy
ASJC Scopus subject areas
- Pathology and Forensic Medicine
Cite this
A single polymerase chain reaction-based protocol for detecting normal and expanded alleles in myotonic dystrophy. / Gennarelli, Massimo; Pavoni, Marco; Amicucci, Paola; Novelli, Giuseppe; Dallapiccola, Bruno.
In: Diagnostic Molecular Pathology, Vol. 7, No. 3, 1998, p. 135-137.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - A single polymerase chain reaction-based protocol for detecting normal and expanded alleles in myotonic dystrophy
AU - Gennarelli, Massimo
AU - Pavoni, Marco
AU - Amicucci, Paola
AU - Novelli, Giuseppe
AU - Dallapiccola, Bruno
PY - 1998
Y1 - 1998
N2 - 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.
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.
KW - CTG repeats
KW - Long PCR
KW - Myotonic dystrophy
UR - http://www.scopus.com/inward/record.url?scp=0031783721&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=0031783721&partnerID=8YFLogxK
U2 - 10.1097/00019606-199806000-00002
DO - 10.1097/00019606-199806000-00002
M3 - Article
C2 - 9836067
AN - SCOPUS:0031783721
VL - 7
SP - 135
EP - 137
JO - Diagnostic Molecular Pathology
JF - Diagnostic Molecular Pathology
SN - 1052-9551
IS - 3
ER -