Analysis of genetic variants in the exon 2 and 3 of autosomal DAZLA gene among infertile South Indian men

Abstract Background Boule, DAZLA, and DAZ are members of the Deleted in Azoospermia family genes, which play significant roles gametogenesis important fertility factors humans. In a few studies, deletion Y chromosomal cluster single nucleotide polymorphisms DAZLA gene were reported to affect male fertility, although this is paradoxical because they found both control fertile men. As result, goal study was check if SNPs on chromosome 3 humans associated infertility population. For computational analysis, different bioinformatics tools such as SIFT, PolyPhen2, Mutation Taster, FATHMM, PROVEAN used analyse mutations. Results Within studied population, we no association between most prevalent A260G (rs11710967) A386G (rs1219183446). We also discovered two new deleterious genetic variations exon gene, one nonsynonymous mutation that replaced Valine with Glutamate at 66 codon position other stop gain 74 amino acid position. These changes RRM domain confirmed by Motif scan analysis results change protein's secondary structure. The highly conserved regulatory for mRNA transport translation. necrospermia phenotypes shown infertile samples these genotypes. Conclusion can conclude further investigation aforesaid mutations may be valuable understanding their significance populations due multifactorial nature arrays expression required every stage spermatogenesis.