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Clinical Chemistry 42: 598-603, 1996;
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Clinical Chemistry, Vol 42, 598-603, Copyright © 1996 by American Association for Clinical Chemistry

Denaturing gradient gel electrophoresis to diagnose multiple endocrine neoplasia type 2

RD Blank, CA Sklar and ML Martin
Department of Medicine, Memorial Sloan-Kettering Cancer Center, New York, NY 10021, USA.

Multiple endocrine neoplasia type 2 (MEN 2) is an autosomal dominant cancer syndrome caused by mutations in the RET protooncogene. Others have already demonstrated the value of genetic testing in known MEN 2 kindreds. Previously described approaches to DNA-level diagnosis, particularly of index cases, are tedious. We developed appropriate denaturing gradient gel electrophoresis (DGGE) conditions for analysis of exons 10, 11, and 16 of this gene, where many of the pathogenic mutations map. We screened 16 members of a three-generation MEN 2 kindred by DGGE and found five affected but still asymptomatic patients, ranging in age from 5 to 67 years. We used DGGE to localize the pathogenic mutations and screen at-risk individuals in several other kindreds. DGGE--which requires no radioactive, fluorescent, or chemiluminescent labeling--is ideally suited to the diagnosis of MEN 2 because of the syndrome's dominant genetics and the rarity of clinically silent variants in the RET gene.


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