MEN2A carrier detection by combined polymerase chain reaction and ligase chain reaction (PCR/LCR) techniques

Journal Article · Thu Sep 01 04:00:00 EDT 1994 · American Journal of Human Genetics

OSTI ID:135556

Wilson, V L; Wel, Q; Danielson, M S ^[1]

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1. Children`s Hospital Research Institute, Denver, CO (United States); and others

Multiple endocrine neoplasia type 2A (MEN2A) is a dominantly inherited cancer syndrome that is characterized by medullary thyroid carcinoma, parathyroid hyperplasia and phaeoachromocytoma. MEN2A predisposing mutations have been shown to occur in the conserved cysteine rich extracellular domain of the ret proto-oncogene. Thus far, only five separate codons, C609, C611, C618, C620, and C634, each coding for cysteine residues in exons 10 and 11 of the human ret gene, have been associated with MEN2A. Direct analyses of all five of these codon sequences was performed by a combination of polymerase chain reaction (PCR) and ligase chain reaction (LCR) techniques. Genomic DNA was initially amplified with PCR primers surrounding the sequences of exons 10 and 11. Using a multiplex LCR reaction, and resolving the products on a 7 M urea, 10% polyacrylamide gel, the presence of a T{yields}C base substitution was immediately identified according to size. We have used these techniques to identify the prediposing mutation in genomic DNA from the proband of a MEN2A family and subsequently demonstrated the inheritance pattern of this same base substitution mutation in the rest of the family. These PCR/LCR techniques provide a rapid MEN2A detection scheme.

• OSTI ID: 135556
• Report Number(s): CONF-941009--
• Journal Information: American Journal of Human Genetics, Journal Name: American Journal of Human Genetics Journal Issue: Suppl.3 Vol. 55; ISSN AJHGAG; ISSN 0002-9297
• Country of Publication: United States
• Language: English

Related Subjects

55 BIOLOGY AND MEDICINE
BASIC STUDIES
CYSTEINE
DETECTION
DNA SEQUENCING
DOMINANT MUTATIONS
ENDOCRINE DISEASES
GENE MUTATIONS
GENETICS
HEREDITARY DISEASES
NEOPLASMS
NERVOUS SYSTEM DISEASES
ONCOGENES
PATIENTS
POLYMERASE CHAIN REACTION
SIZE