Journal of Progressive Medicine and Health Care

Abstract

In human, sex-differentiation is a highly complex phenomenon and if testes fail to descent in scrotum, the clinical condition known as cryptorchidism. Early transcription factors i.e. stem-cell markers Oct4 & Nanog play an important role to maintain pluripotency during embryogenesis. There is lack of genetics and stem cells interaction failed to synchronize that increase risk for the abnormal-differentiation of testes and failed to reach in the scrotum. The etiopathology is still not clear but its believe if fetus is exposed antenatal with teratogen that might be the causative factor for undescended (testes) phenomenon. Present study has been designed to evaluate the frequency of karyotypes, DNA/RNA profiles by using RT-PCR and nucleotide variations using Sangers sequencing. Findings reveal, that the highest frequency (52.0 %) were observed in numerical chromosome variations including loss of Y-chromosomes and chromatid break-point at 4q35 with loss of 7.4 Mb DNA fragment is the novel finding reported first time in the cases of cryptorchidism. PCR analysis showing disappearance of Oct4 band (577bp) and Nanog (151bp), additional band of isoform (100bp). Data was further characterize by Sanger’s sequencing after exposure with cyclophosphamide (1.0 ugm/ml) in the proliferating lymphocytes cultures showing single nucleotide substitution i.e. TTT →TAA, TCA →TAA, and GGA→ TGA followed by changes in the respective amino acids-phenylalanine, serine and glycine after decoding and concludes that-1) genetics and stem cells factors together influence abnormal differentiation of testicular tissue during organogenesis. These findings were further support by nucleotide variations after exposure with cyclophosphamide, and 2) nucleotide substitution might have originates truncated proteins that interfere during descent of testis followed by increase “risk factor” for developing cryptorchidism.