human genetik diseases -...
TRANSCRIPT
Genetic disease is
• a disease that is caused by an abnormality in genetic component
• an illness caused by abnormalities in genes or chromosomes
• Abnormalities can range from a small mutation in a single gene to the addition or subtraction of an entire chromosome or set of chromosomes
DNA - Gene
QWEYUWYSDJKKGASDEHHJDBATAATAADJKLRHWRAKUMAUMAINMUSIGUADKLUTLSDFJEURASKNDBAGKDENGANKAKAKAGUADTUOPIPQEAUHDJFIRPODBAGDIKDIDALAMKAMARAGGUADGJRUAAAVZXCNBSFHAJKRIWERJORYIODBAGARTIDAKMEMBUATBISINGSTOPPPPLAHUEYWIPHGDANMASDBJI
• Genetic disease could be presented from before birth or after birth
• The disorders could be inherited or not, has specific pattern of inheritance or uncertain
• Most genetic disorders are quite rare and affect one person in every several thousands or millions
• Syndrome: A pattern of multiple anomalies though to be pathogenetically related and not known to represent a single sequence or a polytopic field defect
Relative correlation genetic and environment spectrum
% 100 GeneticHeritability - Mono-, poli- genic
- Cancer- Skizophrenia- Asthma- DM- Coronary heart disease- Essential hypertension
- Peptic ulcers- Congenital heart disease- TBC
0 Trauma, toxicityEnvironment
Cabang Genetika
• Genetika umum analisis silsilah, pola pewarisan, dll
• Genetika kedokteran genetika klinis, tatalaksana
penyakit genetik, dll
• Genetika molekuler mutasi, perubahan susunan
gena, patofisiologi penyakit, dll
• Genetika populasi variasi, genetic flow, dll
• Genetika rekayasa kloning, terapi gen, dll
• Dll
Type of genetic diseases
• Chromosomal
• Monogenic
• Polygenic and multifactorial
• Mitochondria
Mendelian / Non mendelian
Hereditary/ Nonhereditary
Sindrom Patau (trisomi 13)
Some Examples of Degenerative Diseases
• Amyotrophic Lateral Sclerosis (ALS), e.g., Lou Gehrig's Disease• Alzheimer's disease• Parkinson's Disease• Multiple system atrophy• Niemann Pick disease• Atherosclerosis• Progressive supranuclear palsy• Cancer• Tay-Sachs Disease• Diabetes• Heart Disease• Keratoconus• Inflammatory Bowel Disease (IBD)• Prostatitis• Osteoarthritis• Osteoporosis• Rheumatoid Arthritis• Huntington's Disease• Chronic traumatic encephalopathy
Penyebab Penyakit Degeneratip
• Genetik mutasi gen
• Gizi kekurangan atau kelebihan zat gizi
• Lifestyle
Genetik + lingkungan sbg penyebab utama
(lifestyle diseases)