GENETIC DISEASES THEIR ORIGINS AND THERAPY
Abstract
This article discusses chromosomal diseases in the field of genetics, including their pathogenesis, development, and origin. It analyzes the main types of chromosomal disorders, their genetic basis, effects on the body, and clinical manifestations. Additionally, the article provides detailed information on the mechanisms of development of these diseases and the factors that contribute to their occurrence. Furthermore, it examines methods for diagnosing chromosomal disorders and scientific approaches to their prevention.
References
1. Motulsky AG. 2010. History of human genetics. In Vogel and Motulsky’s Human Genetics: Problems and Approaches, ed. Speicher MR, Motulsky AG, Antonarakis SE, pp. 13–29. Heidelberg, Ger.: Springer. 4th ed.
2.Soler A, Morales C, Mademont-Soler I, Margarit E, Borrell A, et al. 2017. Overview of chromosome abnormalities in first trimester miscarriages: a series of 1,011 consecutive chorionic villi sample karyotypes. Cytogenet. Genome Res 152:81–89
3.Baird PA, Anderson TW, Newcombe HB, Lowry RB. 1988. Genetic disorders in children and young adults: a population study. Am. J. Hum. Genet 42:677–
4.Slack J, Evans KA. 1966. The increased risk of death from ischaemic heart disease in first degree relatives of 121 men and 96 women with ischaemic heart disease. J. Med. Genet 3:239–57
5.Ingram VM. 1956. A specific chemical difference between the globins of normal human and sickle-cell anaemia haemoglobin. Nature 178:792–94
6.Pauling L, Itano HA, Singer SJ, Wells IC. 1949. Sickle cell anemia, a molecular disease. Science 110:543–48
7.Lejeune J, Gautier M,Turpin R. 1959. Etude des chromosomes somatiques de neuf enfants mongoliens. C. R. Hebd. Séances Acad. Sci 248:1721–22
8.Guthrie R 1961. Blood screening for phenylketonuria. JAMA 178:863
9.Gusella JF, Wexler NS, Conneally PM, Naylor SL, Anderson MA, et al. 1983. A polymorphic DNA marker genetically linked to Huntington’s disease. Nature 306:234–38
10.Friedmann T, Roblin R. 1972. Gene therapy for human genetic disease? Science 175:949–55
