Deletion Polymorphism of the Human c-fms Gene Intron 11: Allelic Frequencies in Some Populations of Russia and Possible Functional Significance

Deletion Polymorphism of the Human c-fms Gene Intron 11: Allelic Frequencies in Some Populations... Analysis of deletion polymorphism of the humanc-fms gene intron 11 (∼425-bp deletion) is of particular interest because of the increased proportion of the heterozygotes among the children born from parents, one of which lacks the deletion-carrying allele, and the other is heterozygous for this allele. In this study, allele and haplotype frequencies of the polymorphism were assessed in a number of Caucasoid and Mongoloid populations of Russia. In all populations tested, relatively high prevalence of the deletion-bearing allele, ranging from 9.45% in ethnic Germans to 20.75% in Altaians, was detected. Russians and Kazakhs were characterized by intermediate frequencies of the rare allele, constituting in these populations 12.89 and 14.93%, respectively. Hardy–Weinberg expectations were met in all populations examined, pointing to a stable level of polymorphism at the c-fms intron 11. It was established by the contextual analysis of the deleted DNA fragment along with the flanking sequences that this region contained a number of transcription factor motifs (ets, CArG, and myc), potentially capable of the regulation of the M-CSF-dependant c-fms transcription. The deletion breakpoint was localized within the CArG motif, which, together with the neighboring ets motif, form the potential CArG/ets composite element. It was suggested that the allele lacking the fragment of intron 11 might be restricted in its ability to modulate the level of the c-fms transcription in response to M-CSF. The molecular epidemiological survey provided indirect evidence favoring the suggestion on the possible functional value of this gene fragment. It was demonstrated that in the samples from acute bronchitis and trichomoniasis patients allelic and genotype frequencies were significantly different from those in the population sample. In case of trichmoniasis, the frequency of rare allele was 2.4 times lower, and in case of acute bronchitis it was 2.1 times higher than in the control sample. Russian Journal of Genetics Springer Journals

Deletion Polymorphism of the Human c-fms Gene Intron 11: Allelic Frequencies in Some Populations of Russia and Possible Functional Significance

Loading next page...
Kluwer Academic Publishers-Plenum Publishers
Copyright © 2004 by MAIK “Nauka/Interperiodica”
Biomedicine; Human Genetics
Publisher site
See Article on Publisher Site


You’re reading a free preview. Subscribe to read the entire article.

DeepDyve is your
personal research library

It’s your single place to instantly
discover and read the research
that matters to you.

Enjoy affordable access to
over 12 million articles from more than
10,000 peer-reviewed journals.

All for just $49/month

Explore the DeepDyve Library

Unlimited reading

Read as many articles as you need. Full articles with original layout, charts and figures. Read online, from anywhere.

Stay up to date

Keep up with your field with Personalized Recommendations and Follow Journals to get automatic updates.

Organize your research

It’s easy to organize your research with our built-in tools.

Your journals are on DeepDyve

Read from thousands of the leading scholarly journals from SpringerNature, Elsevier, Wiley-Blackwell, Oxford University Press and more.

All the latest content is available, no embargo periods.

See the journals in your area

Monthly Plan

  • Read unlimited articles
  • Personalized recommendations
  • No expiration
  • Print 20 pages per month
  • 20% off on PDF purchases
  • Organize your research
  • Get updates on your journals and topic searches


Start Free Trial

14-day Free Trial

Best Deal — 39% off

Annual Plan

  • All the features of the Professional Plan, but for 39% off!
  • Billed annually
  • No expiration
  • For the normal price of 10 articles elsewhere, you get one full year of unlimited access to articles.



billed annually
Start Free Trial

14-day Free Trial