HUMAN CHROMOSOMES AND SOME OF THEIR MUTATIONS

Abstract

A review of the literature has been given concerning the structure and function of chromosomes, DNA and the nucleus. In addition, the cell cycle and the normal and the abnormal behavior of chromosomes during the cell • cycle have been included. Referring to the International System of Human Chromosomes Nomenclature, the nomenclature of chromosomes and their abnormalities have been discussed. The role of cytogenetic analysis in the diagnosis of many diseases have been mentioned th!•ough their benefit in the antenatal care by analysis of amniotic tluid and chorionic villi samples, explaination of repeated abortion in some cases by analysis of product of conception samples, explaining some diseases with congenital anomalies, and evaluating some tumors and bone marrow malignancies regarding the diagnosis and prognosis. Also, different methods for chromosome identification have been discussed. The aim of this work was directed to study the human chromosomes stmcture in their nonnal and abnorn1al forms. It was also intended to provide a benifitial methods in tissue culture, harvesting and staining of chromosomes and getting experience in FISH technique. One hundred and six cases were included in this work.