A 5′-truncated c-myc gene variant not associated with a risk of cancer

N. S. Pellegata, G. Bergamaschi, D. Amadori, A. Aloia, P. Ballarini, L. Del Senno, L. Amaducci, G. N. Ranzani

Research output: Contribution to journalArticle

Abstract

By analyzing c-myc specific fragments from white blood cell DNAs of 98 gastric cancer patients and 46 control subjects, we observed 6 unexpected patterns due to presence of a variant c-myc gene in addition to the normal gene. Restriction enzyme mapping indicated that the variant c-myc gene was the result of a 5′ deletion including the first exon and part of the first intron. The deleted region, non-coding for the functional c-myc protein, contains sequences involved in the regulation of transcription. We therefore analyzed the c-myc mRNAs from a subject carrying the truncated gene and from a subject homozygous for the normal gene in Northern blotting experiments: the mRNAs were indistinguishable, both qualitatively and quantitatively. Family analysis demonstrated that the truncated gene is inherited in a Mendelian fashion. Population studies showed that the allele, both in patients and in control subjects, reaches a polymorphic frequency (2.1% for the whole sample) and that it is not associated with a risk of cancer.

Original languageEnglish
Pages (from-to)579-582
Number of pages4
JournalHuman Genetics
Volume87
Issue number5
DOIs
Publication statusPublished - Sep 1991

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myc Genes
Genes
Neoplasms
Proto-Oncogene Proteins c-myc
Restriction Mapping
Messenger RNA
Northern Blotting
Introns
Stomach Neoplasms
Exons
Leukocytes
Alleles
DNA
Population

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

Cite this

Pellegata, N. S., Bergamaschi, G., Amadori, D., Aloia, A., Ballarini, P., Del Senno, L., ... Ranzani, G. N. (1991). A 5′-truncated c-myc gene variant not associated with a risk of cancer. Human Genetics, 87(5), 579-582. https://doi.org/10.1007/BF00209016

A 5′-truncated c-myc gene variant not associated with a risk of cancer. / Pellegata, N. S.; Bergamaschi, G.; Amadori, D.; Aloia, A.; Ballarini, P.; Del Senno, L.; Amaducci, L.; Ranzani, G. N.

In: Human Genetics, Vol. 87, No. 5, 09.1991, p. 579-582.

Research output: Contribution to journalArticle

Pellegata, NS, Bergamaschi, G, Amadori, D, Aloia, A, Ballarini, P, Del Senno, L, Amaducci, L & Ranzani, GN 1991, 'A 5′-truncated c-myc gene variant not associated with a risk of cancer', Human Genetics, vol. 87, no. 5, pp. 579-582. https://doi.org/10.1007/BF00209016
Pellegata NS, Bergamaschi G, Amadori D, Aloia A, Ballarini P, Del Senno L et al. A 5′-truncated c-myc gene variant not associated with a risk of cancer. Human Genetics. 1991 Sep;87(5):579-582. https://doi.org/10.1007/BF00209016
Pellegata, N. S. ; Bergamaschi, G. ; Amadori, D. ; Aloia, A. ; Ballarini, P. ; Del Senno, L. ; Amaducci, L. ; Ranzani, G. N. / A 5′-truncated c-myc gene variant not associated with a risk of cancer. In: Human Genetics. 1991 ; Vol. 87, No. 5. pp. 579-582.
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