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Medullary thyroid carcinoma: Australian experience with genetic testing.

Authors
  • Ward, J L
  • Hyland, V J
  • Andrew, D S
  • Marsh, D J
  • Robinson, B G
Type
Published Article
Journal
Henry Ford Hospital medical journal
Publication Date
Jan 01, 1992
Volume
40
Issue
3-4
Pages
220–223
Identifiers
PMID: 1362409
Source
Medline
License
Unknown

Abstract

Linkage analysis has been performed in four pedigrees with multiple endocrine neoplasia type 2A (MEN 2A) or familial medullary thyroid carcinoma (MTC) using pericentromeric chromosome 10 probes. Important information regarding carrier status has been provided in 10 individuals, many of whom would not have been identified by pentagastrin stimulation testing. We have also used pulsed field gel electrophoresis (PFGE) to link the probes H4.IRBP and pMCK2 to a 150 kb fragment. Using PFGE, no evidence was found in DNA from lymphocytes of a major DNA rearrangement in two individuals affected with MEN 2A and an individual with MEN 2B compared with normals. Metastatic MTC from one patient has been used to generate a cDNA library which will be used to screen for candidate MEN 2A and MEN 2B gene(s).

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