Analysis of Polymorphic Variants of Gene GIPC1 CGG Repeats in Healthy Individuals and in Patients with Breast Cancer and Non-Small Cell Lung Cancer

Analysis of Polymorphic Variants of Gene GIPC1 CGG Repeats in Healthy Individuals and in Patients... The GIPC1 gene product promotes clustering of some transmembrane receptors, including those involved in carcinogenesis, and protects them against ubiquitin-dependent degradation. The 5′ untranslated region of GIPC1 contains a polymorphic trinucleotide CGG repeat, which has not been characterized earlier. In the present study, we have carried out comparative analysis of the allele and genotype frequencies of this repeat in 129 samples of breast cancer (BC), 58 samples of non-small cell lung cancer (NSCLC), and 215 samples of healthy donors. The CGG repeat in the 5′ untranslated GIPC1 gene region was shown to be highly polymorphic and represented by at least eight alleles. Alleles CGG 10–13 were major, occurring at frequencies of 22, 41, 27, and 9%, respectively; the total frequency of the remaining alleles was approximately 1%. Heterozygosity of the CGG repeat was 0.70. Allele CGG 12 was shown to be associated with high risk of developing NSCLC (α = 0.05). http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png Russian Journal of Genetics Springer Journals

Analysis of Polymorphic Variants of Gene GIPC1 CGG Repeats in Healthy Individuals and in Patients with Breast Cancer and Non-Small Cell Lung Cancer

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Publisher
Springer Journals
Copyright
Copyright © 2005 by MAIK "Nauka/Interperiodica"
Subject
Biomedicine; Microbial Genetics and Genomics; Animal Genetics and Genomics; Human Genetics
ISSN
1022-7954
eISSN
1608-3369
D.O.I.
10.1007/s11177-005-0200-z
Publisher site
See Article on Publisher Site

Abstract

The GIPC1 gene product promotes clustering of some transmembrane receptors, including those involved in carcinogenesis, and protects them against ubiquitin-dependent degradation. The 5′ untranslated region of GIPC1 contains a polymorphic trinucleotide CGG repeat, which has not been characterized earlier. In the present study, we have carried out comparative analysis of the allele and genotype frequencies of this repeat in 129 samples of breast cancer (BC), 58 samples of non-small cell lung cancer (NSCLC), and 215 samples of healthy donors. The CGG repeat in the 5′ untranslated GIPC1 gene region was shown to be highly polymorphic and represented by at least eight alleles. Alleles CGG 10–13 were major, occurring at frequencies of 22, 41, 27, and 9%, respectively; the total frequency of the remaining alleles was approximately 1%. Heterozygosity of the CGG repeat was 0.70. Allele CGG 12 was shown to be associated with high risk of developing NSCLC (α = 0.05).

Journal

Russian Journal of GeneticsSpringer Journals

Published: Oct 10, 2005

References

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