PMID- 12166655
OWN - NLM
STAT- MEDLINE
DCOM- 20020916
LR  - 20061115
IS  - 1434-5161 (Print)
IS  - 1434-5161 (Linking)
VI  - 47
IP  - 4
DP  - 2002
TI  - A rapid and easy method for multiple endocrine neoplasia type 1 mutation 
      detection using conformation-sensitive gel electrophoresis.
PG  - 190-5
AB  - Until now, the study of the multiple endocrine neoplasia type 1 (MEN1) gene in 
      patients suspected of having the disease was expensive and laborious due to the 
      large size of the gene. We have optimized the conformation-sensitive gel 
      electrophoresis (CSGE) technique to analyze by four rather simple multiplex PCR 
      reactions, and a single electrophoresis run, the entire coding region of the MEN1 
      gene, plus the exon-intron boundaries. This improvement of the CSGE technique was 
      confirmed as an effective procedure for screening for the MEN1 gene by detecting 
      ten previously known MEN1 gene mutations and four polymorphisms. The MEN1 gene of 
      12 patients with unknown mutations was then screened, and an abnormal CSGE 
      profile was identified in 10/12 cases. Subsequent DNA sequencing demonstrated 3 
      of them to be novel mutations (E45K, 4479delACAG, 6073insC) and 7 to have been 
      previously reported; in the remaining 2 patients, we confirmed the absence of any 
      alteration of the coding sequence of MEN1. Mutation screening of the MEN1 gene 
      using CSGE was demonstrated to be a fast, simple, and inexpensive method to study 
      patients suspected of having MEN1 disease.
FAU - Arancha, Cebrian
AU  - Arancha C
AD  - Department of Human Genetics, Molecular Pathology Program, Centro Nacional de 
      Investigaciones Oncologicas, Madrid, Spain. acebrian@cnio.es
FAU - Ruiz-Llorente, Sergio
AU  - Ruiz-Llorente S
FAU - Cascon, Alberto
AU  - Cascon A
FAU - Osorio, Ana
AU  - Osorio A
FAU - Martinez-Delgado, Beatriz
AU  - Martinez-Delgado B
FAU - Benitez, Javier
AU  - Benitez J
FAU - Robledo, Mercedes
AU  - Robledo M
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - England
TA  - J Hum Genet
JT  - Journal of human genetics
JID - 9808008
SB  - IM
MH  - Amino Acid Substitution
MH  - Electrophoresis/*methods
MH  - Humans
MH  - Multiple Endocrine Neoplasia Type 1/*genetics
MH  - *Mutation
MH  - Sensitivity and Specificity
EDAT- 2002/08/09 10:00
MHDA- 2002/09/17 10:01
CRDT- 2002/08/09 10:00
PHST- 2002/08/09 10:00 [pubmed]
PHST- 2002/09/17 10:01 [medline]
PHST- 2002/08/09 10:00 [entrez]
AID - 10.1007/s100380200022 [doi]
PST - ppublish
SO  - J Hum Genet. 2002;47(4):190-5. doi: 10.1007/s100380200022.