PMID- 12652570
OWN - NLM
STAT- MEDLINE
DCOM- 20030731
LR  - 20061115
IS  - 0173-0835 (Print)
IS  - 0173-0835 (Linking)
VI  - 24
IP  - 1-2
DP  - 2003 Jan
TI  - Efficient mutation detection in MEN1 gene using a combination of single-strand 
      conformation polymorphism (MDGA) and heteroduplex analysis.
PG  - 26-33
AB  - For facilitated genotypic analysis of multiple endocrine neoplasia type 1 (MEN1), 
      a familial syndrome associated with tumors of the parathyroid and neuroendocrine 
      tissues, we developed two screening methods, heteroduplex mutation assay (HMA) 
      and mutation detection gel analysis (MDGA), both based on electrophoretic 
      discrimination of polymerase chain reaction (PCR) products, to detect the 
      mutations. Forty-three genomic DNA samples were used for the evaluation of these 
      techniques. The whole coding region of MEN1 was PCR-amplified with fluorescent 
      primers and then denatured/renatured before electrophoresis on an automated 
      sequencer. 100% of the mutations were detected, subsequently confirmed and 
      identified by sequencing. "Negative" samples were used to evaluate the 
      specificity and reproducibility of the two techniques. The combination of the two 
      methods allows high throughput cost-effective mutation screening which is less 
      laborious than systematic sequencing of the whole coding region of MEN1. 
      Together, these methods provide an efficient screen for MEN1 mutations.
FAU - Crepin, Michel
AU  - Crepin M
AD  - Secteur Oncologie Moleculaire Huriez-USN, Laboratoire de Biochimie et Biologie 
      Moleculaire, CHRU, Lille, France.
FAU - Escande, Fabienne
AU  - Escande F
FAU - Pigny, Pascal
AU  - Pigny P
FAU - Buisine, Marie-P
AU  - Buisine MP
FAU - Calender, Alain
AU  - Calender A
FAU - Porchet, Nicole
AU  - Porchet N
FAU - Odou, Marie-Francoise
AU  - Odou MF
CN  - Groupe d'Etude des Neoplasies Endocriniennes Multiples, Lyon
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - Germany
TA  - Electrophoresis
JT  - Electrophoresis
JID - 8204476
RN  - 0 (DNA Primers)
RN  - 0 (MEN1 protein, human)
RN  - 0 (Neoplasm Proteins)
RN  - 0 (Proto-Oncogene Proteins)
SB  - IM
MH  - Base Sequence
MH  - DNA Mutational Analysis/*methods/statistics & numerical data
MH  - DNA Primers/genetics
MH  - Electrophoresis, Agar Gel
MH  - *Genes, Tumor Suppressor
MH  - Heteroduplex Analysis/*methods/statistics & numerical data
MH  - Humans
MH  - Multiple Endocrine Neoplasia Type 1/genetics
MH  - Mutation
MH  - Neoplasm Proteins/*genetics
MH  - Polymerase Chain Reaction
MH  - *Polymorphism, Single-Stranded Conformational
MH  - *Proto-Oncogene Proteins
MH  - Reproducibility of Results
MH  - Sensitivity and Specificity
EDAT- 2003/03/26 04:00
MHDA- 2003/08/02 05:00
CRDT- 2003/03/26 04:00
PHST- 2003/03/26 04:00 [pubmed]
PHST- 2003/08/02 05:00 [medline]
PHST- 2003/03/26 04:00 [entrez]
AID - 10.1002/elps.200390023 [doi]
PST - ppublish
SO  - Electrophoresis. 2003 Jan;24(1-2):26-33. doi: 10.1002/elps.200390023.