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.
journal_name
Hum Genetjournal_title
Human geneticsauthors
Pellegata NS,Bergamaschi G,Amadori D,Aloia A,Ballarini P,Del Senno L,Amaducci L,Ranzani GNdoi
10.1007/BF00209016subject
Has Abstractpub_date
1991-09-01 00:00:00pages
579-82issue
5eissn
0340-6717issn
1432-1203journal_volume
87pub_type
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