Journal article
Improved predictive test for MEN2, using flanking dinucleotide repeats and RFLPs
American journal of human genetics, Vol.51(6), pp.1430-1442
12/01/1992
PMCID: PMC1682920
PMID: 1361102
Abstract
Gene(s) for the autosomal dominant endocrine cancer syndromes, multiple endocrine neoplasia type 2A (MEN2A), multiple endocrine neoplasia type 2B (MEN2B), and familial medullary thyroid carcinoma (MTC1) all map to the pericentromeric region of chromosome 10. Predictive testing for the inheritance of mutant alleles in individuals at risk for these disorders has been limited by the availability of highly informative and closely linked flanking markers. We describe the development of eight new markers, including two PCR-based dinucleotide repeat polymorphisms and six RFLPs that flank the disease loci. One of the dinucleotide repeat markers (sJRH-1) derives from the RBP3 locus on 10q11.2 and has a PIC of .88. The other dinucleotide repeat (sTCL-1) defines a new locus, D10S176, that maps by in situ hybridization to 10p11.2 and has a PIC of .68. We have constructed a new genetic linkage map of the pericentromeric region of chromosome 10, on the basis of 13 polymorphisms at six loci, which places the MEN2A locus between the dinucleotide repeat markers, with odds of 5,750:1 over the next most likely position. Using this set of markers, predictive genetic testing of 130 at-risk individuals from six families segregating MEN2A revealed that 95% were jointly informative with flanking markers, representing a significant improvement in genetic testing capabilities.
Details
- Title: Subtitle
- Improved predictive test for MEN2, using flanking dinucleotide repeats and RFLPs
- Creators
- J R Howe - Department of Surgery, Washington University School of Medicine, St. Louis, MO 63110T C Lairmore - Department of Surgery, Washington University School of Medicine, St. Louis, MO 63110S K Mishra - Department of Surgery, Washington University School of Medicine, St. Louis, MO 63110S Dou - Department of Surgery, Washington University School of Medicine, St. Louis, MO 63110R Veile - Department of Surgery, Washington University School of Medicine, St. Louis, MO 63110S A Wells - Department of Surgery, Washington University School of Medicine, St. Louis, MO 63110H Donis-Keller - Department of Surgery, Washington University School of Medicine, St. Louis, MO 63110
- Resource Type
- Journal article
- Publication Details
- American journal of human genetics, Vol.51(6), pp.1430-1442
- PMID
- 1361102
- PMCID
- PMC1682920
- ISSN
- 0002-9297
- eISSN
- 1537-6605
- Language
- English
- Date published
- 12/01/1992
- Academic Unit
- Surgery
- Record Identifier
- 9984321861102771
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