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Related Experiment Videos

Improved predictive test for MEN2, using flanking dinucleotide repeats and RFLPs.

J R Howe1, T C Lairmore, S K Mishra

  • 1Department of Surgery, Washington University School of Medicine, St. Louis, MO 63110.

American Journal of Human Genetics
|December 11, 1992
PubMed
Summary

New genetic markers improve predictive testing for endocrine cancer syndromes like MEN2A. These markers significantly enhance the ability to identify individuals at risk for multiple endocrine neoplasia types 2A and 2B, and familial medullary thyroid carcinoma.

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Area of Science:

  • Genetics
  • Oncology
  • Endocrinology

Background:

  • Autosomal dominant endocrine cancer syndromes, including multiple endocrine neoplasia type 2A (MEN2A), MEN2B, and familial medullary thyroid carcinoma (MTC1), are linked to chromosome 10.
  • Predictive genetic testing for these syndromes has been hindered by a lack of informative genetic markers near the disease loci.

Purpose of the Study:

  • To develop and characterize new genetic markers flanking the MEN2A, MEN2B, and MTC1 loci on chromosome 10.
  • To construct an improved genetic linkage map of the chromosome 10 pericentromeric region.
  • To enhance the capability of predictive genetic testing for individuals at risk of these hereditary endocrine cancers.

Main Methods:

  • Development of eight new genetic markers, including two PCR-based dinucleotide repeat polymorphisms (sJRH-1 and sTCL-1) and six RFLPs.

Related Experiment Videos

  • Mapping of new loci (RBP3 and D10S176) using techniques like in situ hybridization.
  • Construction of a genetic linkage map using 13 polymorphisms across six loci.
  • Application of the new marker set for predictive genetic testing in 130 at-risk individuals from six MEN2A families.

    • Main Results:

    • The MEN2A locus was precisely mapped to the pericentromeric region of chromosome 10, situated between the newly developed dinucleotide repeat markers with high statistical confidence (odds of 5,750:1).
    • The marker sJRH-1 at RBP3 locus (10q11.2) showed high polymorphism information content (PIC = 0.88), and sTCL-1 defined a new locus D10S176 (10p11.2) with PIC = 0.68.
    • The new set of flanking markers demonstrated high informativeness, with 95% of tested individuals being jointly informative, significantly improving predictive testing capabilities.

    Conclusions:

    • The developed genetic markers and linkage map provide a substantial advancement for the genetic diagnosis of MEN2A, MEN2B, and MTC1.
    • Improved genetic testing facilitates more accurate identification of at-risk individuals, enabling timely clinical management and genetic counseling.
    • This work represents a significant improvement in the genetic testing capabilities for hereditary endocrine cancer syndromes linked to chromosome 10.