Abstract
POPULATION-GENETIC ASPECT OF SELECTED QUALITATIVE TRAITS DISTRIBUTION IN A SELECTED SAMPLE OF PERSONS WITH BREAST CANCER

Metovic Azra*, Musanovic Jasmin, Ramic Nerman, Lujinovic Almira, Pepic Esad, Ikanovic Tarik, Kurtagic-Pepic Emina, Damir Secic

ABSTRACT

Introduction: Breast cancer is the most common malignant tumor in women in general, around the world as a whole, which occurs when normal glandular cells of the breast change their properties and begin to grow uncontrollably, multiply and destroy the surrounding healthy tissue. Starting from the assumption that hereditary breast cancer has a multifactorial model, this article compares the distribution of selected qualitative characteristics in patients (experimental group) with the population-genetic structure of these characteristics from a healthy population (control group). Aim: Based on the experience of numerous researchers who studied certain monogenic and oligogenic qualitative traits in humans, the aim of this study was to determine the degree of genetic homozygosity using the homozygous recessive traits (HRT). Methods: This population-genetic study included two groups of respondents, experimental and control (80 in total). The study was conducted using a test for determining homozygous-recessive traits in humans (degree of homozygosity), the HRT-test, which includes a series of predominantly qualitative morphological and functional characteristics. The statistical significance of the differences between the obtained and expected values of recessive homozygotes was assessed using the Chi-square test. The expected values of recessive homozygotes were obtained using the Hardy-Weinberg formula: p2 + 2pq + q2aa = 1, which is valid when the population is in genetic equilibrium. Results: A statistically significant difference in the frequency of occurrence between the examined groups was determined for the following phenotypes: two flowers in the hair, soft hair, inability to bend the tongue, speech defect “R”, absence of malleus on the phalanges of patients and healthy differ in approximately 25% of gene alleles. Conclusion: This finding suggests the possibility of association of appropriate gene alleles with the genetic susceptibility for breast cancer. As a cause of increased recessive homozygosity in patients with breast cancer, there is a genetic burden that could cause reduced resistance to environmental factors as the main triggers for the development of this type of cancer.

Keywords: breast cancer; HRT-test; genetic homozygosity, allelic frequency.


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