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Practical guidelines for DNA-based testing in multiple endocrine neoplasia type 1.

C Larsson¹, M Nordenskjold, B Skogseid

¹Department of Clinical Genetics, Karolinska Hospital, Stockholm, Sweden.

Henry Ford Hospital Medical Journal

|January 1, 1992

Summary

Multiple endocrine neoplasia type 1 (MEN 1) is a genetic disorder causing tumors. Researchers developed a DNA test to identify individuals carrying the MEN 1 gene, aiding in early diagnosis and management.

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Area of Science:

Endocrinology
Genetics
Oncology

Background:

Multiple endocrine neoplasia type 1 (MEN 1) is an autosomal dominant disorder.
MEN 1 predisposes individuals to neoplastic lesions in parathyroid glands, neuroendocrine pancreas, and anterior pituitary.

Purpose of the Study:

To localize the genetic defect responsible for MEN 1.
To develop a DNA-based method for identifying MEN 1 gene carriers.

Main Methods:

Genetic linkage analysis in three MEN 1 families.
Analysis of six MEN 1 families using 14 DNA marker systems near the MEN 1 gene.

Main Results:

The genetic defect for MEN 1 was localized to chromosome 11q.
A method for identifying MEN 1 gene carriers was developed.

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Conclusions:

DNA-based diagnostics can identify individuals with MEN 1 predisposition.
Practical aspects of DNA-based MEN 1 carrier identification are described.