14.遗传性疾病2.ppt

Genetic Disorders(Inherited Diseases) Zou Xiao-bing Department of Pediatrics 3rd Affiliated Hospital Sun Yat-sen University Great changes in medicine one of the biggest victories in medicine over the past 100 years is that infectious diseases have decreased dramatically, for example, smallpox was eradicated, poliomyelitis will soon be eradicated and pertusis, diphtheria, malaria, measles are diminishing The reasons of the changes in medicine Social progress planned immunization Advances in medical sciences better nutrition genetic disorders are increasing A genetic disorder is an illness caused by abnormalities in genes or chromosomes. While some diseases, such as cancer, are due in part to a genetic disorders, they can also be caused by environmental factors. Reasons Environment pollution caused by development : mutagenic substances come from industrial wastes, nuclear wastes and modern human life, drug abuse such as the use of thalidomide. Improved diagnostic techniques include biochemical techniques, cytogenetic techniques and more important, molecular genetic techniques. Epidemiology of genetic disorders in China It is estimated that ,each year in China , there are 20,000,000 live birth neonates. 5% of them will suffer from inherited disorders or birth defects. it means that each year there are 1,000,000 new patients. Over 10,000 kind of inherited diseases are found by now. Basic of genetics Cell is the basic unit of human body. Chromosome is the carrier of inheritance and gene. Normal cell contain 23 pairs chromosomes, with about 30,000 structural genes Basic of genetics chromosomes exist in pair, so genes exist in pair. Paired genes could be divided into dominant gene and recessive gene. traits are controlled by the genes One gene one enzyme theory the abnormal chromosomes and genes result in genetic disorders. Classification of genetic disorders Chromosomal abnormalities: including euploid ,21 trisomy, 45,XO(turner syndrome) and structure