2018, Number 5
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Rev Mex Urol 2018; 78 (5)
Frequency of allelic variants of the TMPRSS2 gene in a prostate cancer-free Southwestern Colombian population
García-Perdomo HA, Zamora-Segura BD, Sánchez A
Language: English
References: 21
Page: 354-358
PDF size: 310.36 Kb.
ABSTRACT
Objective: To describe the frequency of the TMPRSS2 gene and its variants in a prostate
cancer-free Southwestern Colombian population.
Materials and Methods: An observational study was conducted that included cancerfree
persons, regardless of age, from Southwestern Colombia. Blood samples were drawn
from the patients for DNA extraction. Blood drops were collected and dried on filters
and immersed in phosphate buffer, utilizing the DNeasy kit. The preparation process
was carried out using the TruSeq Exome Library Prep
® kit and the resulting libraries were
normalized with the TruSeq Rapid Exome
® kit. The commercial kits were provided by
Illumina
®. We sequenced the full exome and identified the variants associated with the
TMPRSS2 gene. Descriptive statistics were employed for the data analysis.
Results: The study population was made up of 162 persons from whom 7,315,466
sequence data were obtained. The TMPRSS2 gene was found in 414 data (4.3%). The
most common SNP was rs140530035 (32.1%) and the most relevant SNP sequenced
was rs12329760 (10.6%).
Conclusion: TMPRSS2 was not frequent in the population studied. The most important
polymorphism associated with the TMPRSS2 gene was rs12329760.
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