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1.
Ultrason Sonochem ; 8(2): 97-101, 2001 Apr.
Article in English | MEDLINE | ID: mdl-11326618

ABSTRACT

The sonochemical reaction of Fe(CO)5 and triethylphosphine has been found to produce solid amorphous iron phosphide of composition FeP. The resulting compound was characterized by elemental microanalysis, scanning electron microscopy, energy-dispersive X-ray analysis, and Debye-Scherrer powder X-ray diffraction. X-ray powder patterns were obtained after the amorphous material had been heated above 950 degrees C and then slowly cooled to induce crystallization. This reaction provides the first use of ultrasound to sonochemically synthesize amorphous phosphide semiconductor materials from organometallic precursors.

2.
Hum Mutat ; 7(2): 100-4, 1996.
Article in English | MEDLINE | ID: mdl-8829625

ABSTRACT

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.


Subject(s)
Carcinoma, Medullary/genetics , Drosophila Proteins , Multiple Endocrine Neoplasia Type 2a/genetics , Proto-Oncogene Proteins/genetics , Receptor Protein-Tyrosine Kinases/genetics , Thyroid Neoplasms/genetics , Base Sequence , DNA Primers/chemistry , Electrophoresis, Polyacrylamide Gel , Exons/genetics , Humans , Molecular Sequence Data , Nucleic Acid Denaturation , Pedigree , Point Mutation/genetics , Polymerase Chain Reaction , Proto-Oncogene Mas , Proto-Oncogene Proteins c-ret , Urea/pharmacology
3.
Surgery ; 118(2): 257-63; discussion 263-4, 1995 Aug.
Article in English | MEDLINE | ID: mdl-7638742

ABSTRACT

BACKGROUND: Recent identification of RET mutations in multiple endocrine neoplasia type 2A (MEN 2A) allows a DNA-based approach to diagnosis in lieu of calcitonin sampling. To prospectively evaluate the efficacy of mutational analysis, genetic screening was performed in 124 patients (53 male, 71 female; age, 1 month to 80 years) at risk for MEN 2A referred over 3 months. METHODS: Analysis used genomic DNA and a polymerase chain reaction-based denaturing gradient gel electrophoresis strategy for mutation detection at RET codons 609, 611, 618, 620, and 634. Ninety-three of 124 patients were from established MEN 2A kindreds (group A), and screening replaced calcitonin testing. Twenty-one of 124 patients (group B) represented index cases of medullary thyroid carcinoma (MTC), and DNA analysis was performed to distinguish sporadic from hereditary disease. Ten patients (group C) had modest calcitonin elevations or had undergone thyroidectomy without confirming pathologic results, and testing was undertaken to clarify status. RESULTS: Group A: RET mutations occurred in 29 (median age, 10 years) of 93 patients, 14 of whom underwent thyroidectomy. No false-positive results were observed. Group B: five (24%) of 21 patients with seemingly sporadic MTC had RET mutations at codons 618 (one), 620 (one), or 634 (three). Group C: Nine of 10 patients with alleged MEN 2A had genetically negative results. CONCLUSIONS: Denaturing gradient gel electrophoresis reliably detects MEN 2A. Modest calcitonin elevations may lead to a false-positive diagnosis of MTC. DNA testing is the optimal approach to evaluating MEN 2A. Index cases of sporadic MTC should also undergo DNA analysis.


Subject(s)
Calcitonin/blood , Genetic Testing/methods , Multiple Endocrine Neoplasia Type 2a/genetics , Adolescent , Adult , Aged , Aged, 80 and over , Base Sequence , Child , Child, Preschool , DNA Mutational Analysis , DNA, Neoplasm/analysis , Female , Humans , Infant , Infant, Newborn , Male , Middle Aged , Molecular Probes/genetics , Molecular Sequence Data , Pedigree , Prospective Studies
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