Preclinical detection of men 2A gene carrier using linked DNA markers

Norifumi Tanaka, Masayuki Yamamoto, Tetsuro Miki, Makoto Okazaki, Isao Sakita, Takashi Shimotake, Tetsuro Kobayashi, Akira Miyauchi, Takesada Mori, Shin ichiro Takai

Research output: Contribution to journalArticle

Abstract

We have performed preclinical risk estimation of multiple endocrine neoplasia type 2A (MEN 2A) by using the polymorphic DNA markers tightly linked to the MEN2A locus. The gene for MEN 2A has been assigned to the pericentromeric region of chromosome 10 by linkage analysis. The preclinical detection of gene carriers in MEN 2A families using tightly linked DNA markers is useful for surgical treatment at an early stage. The DNA markers, RBP3 (retinol-binding protein 3, interstitial) and FNRB (fibronectin receptor, beta polypeptide), are both tightly linked to the MEN2A locus, and are localized to opposite sides of the MEN2A locus. We have used RBP3 and FNRB as markers for preclinical diagnosis. Of 18 Japanese families with MEN 2A, 6 families are informative for both loci, and other 10 families are informative for either RBP3 or FNRB. In one informative family, a 20-year-old female is predicted to be the gene carrier (probability; about 99%). She should be carefully followed up till full penetrance age. We conclude that DNA-based prediction of MEN 2A is an effective procedure for clinical use.

Original languageEnglish
Pages (from-to)165-170
Number of pages6
JournalThe Japanese Journal of Human Genetics
Volume36
Issue number2
DOIs
Publication statusPublished - 1991 Jun 1
Externally publishedYes

Keywords

  • MEN 2A
  • gene carriers
  • linked DNA markers

ASJC Scopus subject areas

  • Genetics(clinical)

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  • Cite this

    Tanaka, N., Yamamoto, M., Miki, T., Okazaki, M., Sakita, I., Shimotake, T., Kobayashi, T., Miyauchi, A., Mori, T., & Takai, S. I. (1991). Preclinical detection of men 2A gene carrier using linked DNA markers. The Japanese Journal of Human Genetics, 36(2), 165-170. https://doi.org/10.1007/BF01876580