Polymorphisms in protamine 1 and 2 genes in asthenozoospermic men: A case-control study|
Nabi, Ali; Khalili, Mohammad Ali; Moshrefi, Mojgan; Sheikhha, Mohammad Hasan; Mehrjardi, Ehsan Zare & Ashrafzadeh, Hamid Reza
Background: Asthenozoospermia is one of the etiologies for male factor infertility.
It was shown that any abnormality in protamines genes, reduction of protamines
transcript and protamines deficiency may play a key role in asthenozoospermia.
Objective: The aim of the current study was the evaluation of protamine-1 and 2
genes (PRM1 and PRM2) polymorphisms in asthenozoospermic men.
Materials and Methods: In this case-control study, the samples were corresponded
to asthenozoospermic specimens of infertile men. The normozoospermic samples
were considered as the control group. DNA sequence amplification was performed
using four PRM1 and PRM2 primers, designed from 5' to 3' flank regions. The
human PRM1 and PRM2 gene sequences were screened in search of potential
mutations in highly prevalent polymorphism regions in asthenozoospermia versus
Results: Totally, nine highly prevalent polymorphism regions between the forward
and reverse primers were screened. Three of them corresponded to PRM1 and six to
PRM2. The most prevalent polymorphism regions in PRM1 were related to 102G>T
(rs35576928), 49C>T (rs140477029) and 139C>A (rs737008). In the PRM2, 6
highly prevalent polymorphisms regions were screened, including 248C>T
(rs779337774), 401G>A (rs545828790), 288C>T (rs115686767), 288G>C
(rs201933708), 373C>A (rs2070923), and 298G>C (rs1646022). The allele
frequencies of three upper mentioned single nucleotide polymorphisms in
asthenozoospermic men including 373C>A, 298G>C and 139C>A was higher than
the control group.
Conclusion: Our findings indicated that the frequency of some altered genotypes in
asthenozospermia was slightly higher than control group. We proposed more
extensive studies to be sure that; these genotypes can precisely be related to
diagnosis of asthenozoospermia, as the molecular markers.
Protamine; Asthenozoospermia; Single nucleotide polymorphisms.