No abstract.Peer Reviewedhttp://deepblue.lib.umich.edu/bitstream/2027.42/38583/1/10_ftp.pd

Collins, Francis S.

Dawson, David C.

Mansoura, Monique K.

Nasr, Samya Z.

Strong, Theresa V.

Human Mutation

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. © 1996 Wiley-Liss, Inc.Peer Reviewedhttp://deepblue.lib.umich.edu/bitstream/2027.42/38584/1/2_ftp.pd

Peacock, Michael L.

Borst, Marilyn J.

Sweet, Jason D.

Decker, Ruth A.

Deep Blue Documents

Detection of  RET  mutations in multiple endocrine neoplasia type 2a and familial medullary thyroid carcinoma by denaturing gradient gel electrophoresis

Perrin, G.

Morris, Michael Andréw

Antonarakis, Stylianos

Boltshauser, E.

Hutter, Pierre

Archive ouverte UNIGE

Two novel mutations affecting mRNA splicing of the neurofibromatosis type 1 (NF1) gene