Population-specific genetic variation at microRNA-629-binding site in the 3'-untranslated region of NBS1 gene in ovarian cancer patients

Micrornas (mirnas) have emerged as key gene regulators of wide ranging biological pathways and early studies have shown that mirna expression is misrepresented in cancer and experimental data substantiates the fact that cancer phenotypes can be modified by targeting mirna expression. data obtained through high-throughput technologies is deepening our understanding about the fact that mirnas bind to target sequences in mrnas,typically resulting in repressed gene expression. it has been convincingly revealed that loss or gain of mirna function can be caused by a single point mutation in either the mirna or its target or by epigenetic silencing of primary mirna transcription units. methodology: 3'-utr of nbs1 gene was genotyped in a pakistani ovarian cancer case-control population including 20 cases and 10 controls using polymerase chain reaction-restriction fragment length polymorphism (pcr-rflp) analysis. results: in the present laboratory research,we studied 3' utr c/t polymorphism in nbs gene in 20 ovarian cancer patients and 10 controls. the results indicated that out of 20 patients 8(40%) were of tt genotype. 6(30%) were homozygous for c and 6(30%) were of ct genotype. genotyping of age and sex matched controls revealed that out of 10,3(30%) were of ct genotype. 4(40%) were cc and 3(30%) were tt. conclusion: nbs is an important component of dna damage repair signaling networks,and a better knowledge of how mutations influence protein networks is an important step in understanding cancer progression.