Background & Aims: Tyrosinase is the most important enzyme in the production of pigments of the skin, eyes, and hair follicles. The enzyme is encoded by tyrosinase gene (TYR) or oculocutaneous albinism type 1A (OCA1A). Mutations in TYR gene result in pigmentation disorders such as albinism in humans. In view of the large number of mutations reported in this gene, the aim of this study was to id...

Aim of the study: To Evaluate usefulness and reliability cell free DNA as a screening method to identify mothers at risk fetus with trisomy 21, 18, 13, sex chromosomal anomalies other abnormalities.Method: This is prospective observational study conducted Chalmeda Anand Rao Institute Medical Sciences, Karimnagar from period October 2020 2022. Patients were included least one atypical biochemica...

background: minimal residual disease (mrd) tests provide early identification of hematologic relapse and timely management of acute myeloid leukemia (aml) patients. approximately, 50% of aml patients do not have clonal chromosomal aberrations and categorize as a cytogenetically normal acute myeloid leukemia (cn-aml). about 60% of adult cn-aml has a mutation in exon 12 of npm1 gene. this mutatio...

background: recurrent miscarriage is defined as two or more recurrent spontaneous miscarriages. several causes have been suggested, among which, chromosomal abnormalities in couples is considered to have a role in this regard. however, its significance varies among different populations. the present study was carried out to evaluate the prevalence of chromosomal aberrations in couples with recu...

Localized sets of random point mutations generated by PCR amplification can be transferred efficiently to the chromosome of Acinetobacter ADP1 (also known as strain BD413) by natural transformation. The technique does not require cloning of PCR fragments in plasmids: PCR-amplified DNA fragments are internalized by cells and directly incorporated into their genomes by homologous recombination. P...