PMID- 8829625
OWN - NLM
STAT- MEDLINE
DCOM- 19961017
LR  - 20211203
IS  - 1059-7794 (Print)
IS  - 1059-7794 (Linking)
VI  - 7
IP  - 2
DP  - 1996
TI  - Detection of RET mutations in multiple endocrine neoplasia type 2a and familial 
      medullary thyroid carcinoma by denaturing gradient gel electrophoresis.
PG  - 100-4
AB  - Germline missense mutations within the coding region of the RET proto-oncogene 
      have recently been described in patients with the dominantly inherited cancer 
      syndromes, multiple endocrine neoplasia type 2a (MEN 2a) and familial medullary 
      thyroid carcinoma (FMTC). To date, the sequence variations occur in RET exons 10 
      and 11 and alter highly conserved cysteine residues in the proposed extracellular 
      domain at codons 609, 611, 618, 620, and 634. To expedite rapid screening of 
      populations at risk of MEN 2a or FMTC, we developed a PCR-based denaturing 
      gradient gel electrophoresis (DGGE) strategy that detects polymorphisms occurring 
      at all five Cys codons in both RET exons using identical gel conditions. In this 
      report, the screening results from DGGE analysis of 15 distinct MEN 2a and FMTC 
      mutations are shown. Each mutation generated a clearly distinguishable and unique 
      homo- and heteroduplex band pattern. Given the highly efficient, reproducible, 
      and sensitive nature of this approach, DGGE is particularly appropriate for 
      rapid, large-scale screening of patients. Since prior knowledge of the RET 
      mutation is unnecessary for analysis, DGGE is potentially valuable for 
      distinguishing germline from seemingly sporadic medullary thyroid cancer as well 
      as identifying novel sequence changes.
FAU - Peacock, M L
AU  - Peacock ML
AD  - Department of Surgery, University of Michigan Medical Center, Ann Arbor 48109, 
      USA.
FAU - Borst, M J
AU  - Borst MJ
FAU - Sweet, J D
AU  - Sweet JD
FAU - Decker, R A
AU  - Decker RA
LA  - eng
GR  - 1K08DK02176-02/DK/NIDDK NIH HHS/United States
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PT  - Research Support, U.S. Gov't, P.H.S.
PL  - United States
TA  - Hum Mutat
JT  - Human mutation
JID - 9215429
RN  - 0 (DNA Primers)
RN  - 0 (Drosophila Proteins)
RN  - 0 (MAS1 protein, human)
RN  - 0 (Proto-Oncogene Mas)
RN  - 0 (Proto-Oncogene Proteins)
RN  - 8W8T17847W (Urea)
RN  - EC 2.7.10.1 (Proto-Oncogene Proteins c-ret)
RN  - EC 2.7.10.1 (Receptor Protein-Tyrosine Kinases)
RN  - EC 2.7.10.1 (Ret protein, Drosophila)
SB  - IM
MH  - Base Sequence
MH  - Carcinoma, Medullary/*genetics
MH  - DNA Primers/chemistry
MH  - *Drosophila Proteins
MH  - Electrophoresis, Polyacrylamide Gel
MH  - Exons/genetics
MH  - Humans
MH  - Molecular Sequence Data
MH  - Multiple Endocrine Neoplasia Type 2a/*genetics
MH  - Nucleic Acid Denaturation
MH  - Pedigree
MH  - Point Mutation/genetics
MH  - Polymerase Chain Reaction
MH  - Proto-Oncogene Mas
MH  - Proto-Oncogene Proteins/*genetics
MH  - Proto-Oncogene Proteins c-ret
MH  - Receptor Protein-Tyrosine Kinases/*genetics
MH  - Thyroid Neoplasms/*genetics
MH  - Urea/pharmacology
EDAT- 1996/01/01 00:00
MHDA- 2000/06/22 10:00
CRDT- 1996/01/01 00:00
PHST- 1996/01/01 00:00 [pubmed]
PHST- 2000/06/22 10:00 [medline]
PHST- 1996/01/01 00:00 [entrez]
AID - 10.1002/(SICI)1098-1004(1996)7:2<100::AID-HUMU2>3.0.CO;2-G [pii]
AID - 10.1002/(SICI)1098-1004(1996)7:2<100::AID-HUMU2>3.0.CO;2-G [doi]
PST - ppublish
SO  - Hum Mutat. 1996;7(2):100-4. doi: 
      10.1002/(SICI)1098-1004(1996)7:2<100::AID-HUMU2>3.0.CO;2-G.