Investigations on the relationship between malignancy and a single gene mutation and chromosomal abnormalities

SUMMARY INVESTIGATIONS ON THE RELATIONSHIP BETWEEN MALIGNANCY AND A SINGLE GENE MUTATION AND CHROMOSOMAL ABNORMALITIES. In this study, between the years of 1980 and 1983 the rela tionship between the malignancy and a single gene mutation and chro mosomal aberrations was investigated in a total number of 103 pati ents, 61 males and 42 females, diagnosed as malignant at different clinical wards in Medical School, Dicle University. To do this, ana lysis of pedigree and cytogenetic studies have been carried out. In addition, a total number of 20 healthy people, 10 males and 10 fema les, are used as control group. The relationship between malignancy and hereditary factors have been studied in those patients using the pedigree method (8,98,- 99,100) which is one of the common indirect techniques. For the chro mosomal studies, the basic procedures which are routinely practiced in cytogenetic laboratories as bone-marrow (8,18,36,97,99,102) and peripheral blood culture methods (13,26,52,74) have been used. The cells in the preparations obtained have been evaluated in term of numerical and structural chromosomal aberrations and have been tried to determine which group of chromosomes are affected by aberrations in those which worth investigation by carrying out karyo type analysis. Also, the difference between the cell incidence obta ined from the patients and the control group and containing numerical and structural chromosomal aberrations is evaluated using statistical methods. At the end of this study, we came to the following conclu sions;-64- 1. We believe that; there is a relationship between the carcinoma and the hereditary factors. 2. A specific chromosomal aberration (Philadelphia chromo-* some) in about 71,4 % of patients suffering from chronic myeloid leukemia is found. 3. Any specific chromosomal aberrations hasn't been found in cases having chronic lymphocytic leukemia and acute lymphocytic leukemia but cells containing various chromosomal aberrations* ı have been detected in about 57,1 % of patients, with acute lymphocytic leukemia. 4. No specific chromosomal aberrations has been found, in malignant patients, falling outside of leukemic forms, in whom chro mosomal studies have been carried out by peripheral blood culture. 5. The incidence of cells, containing numerical and structu ral chromosomal aberrations, obtained from both leukemic and other malignant cases, has implicated that; it is different and meaningful from those obtained from the control group. 6. We believe that; there may be a relationship between the carcinoma and chromosomal aberrations.