Bai thuyt trinh GENETICS DISORDER

HELLO EVERYBODY Today, me and my buddy here want to introduce to y’all a fantastic topic in GENETICS Phạm Vũ Tuyên Lý Đăng Duy GENETICS DISORDER Genetic disorder is a disease that is caused by an abnormality in an individual’s DNA.Abnormalities range form a small mutation I DNA or addition or subtraction of an entire or set of chromosomes The rate of one person has GD is quite low (1/1000 or1/1000000) GD results by : Point mutation /insertion,deletion/extra,missing chromosome,or both Trisomy Fragile X Sex Chromosome Abnormalities • Autosomal dominamt • Autosomal recessive Multifactorial disorders Types of Genetic Diseases Changes in Chromosome Structure Mitochondriall CANCER • Linked recessive genetic • Linked dominant genetic DOWN SYNDROME(Trisomy 21) • It is an GD caused by the presence of all of an extra 21th chromosome • The average IQ of children with Down syndrome is around 50,compared to normal children with an IQ of 100 • Effect by mom age ( The older mom’s age ,the bigger chance of being effected ) • Dad’s age is irrelevant • Duplication, Translocation PATAU SYNDROME(Trisomy 13) •A syndrome in which a patient had an additional chromosome 13 due to nondisjunction of chromosomes during meiosis • The extra chromosome 13 disrupt the normal course of development , causing heart and kidney defects EDWARDS SYNDROME(Trisomy 18) • It is an GD caused by the presence of all of an extra 18th chromosome due to meiotic nondisjunction • Effect by mother of baby (mom is effected by working in radioactive enviroment) • Rate : 1/6000 live births (80% are female ) KLINEFELTER,TURNER SYNDROME Klinefelter Turner Cri du chat Syndrome(Jerome Lejeune1963) • Cri du chat also known as chromosome 5p deletion syndrome, 5p minus syndrome • Missing a part of chromosome ( DELETION on the short arm of chromosome • Cries like a CAT Neuropathy Leber hereditary optic • Disease is caused by mutation on mitochondrial genome • Rate :1/50000-1/300000 European Except • Blind ,lose sight • Peripheral Nervous System’s problems Hemophilia A • Caused by the inheritance of one recessive gene on the X (males) or two recessive genes on both X’s (females) • Affects • Leads blood –blood does not clot to severely increased risk of bleeding from common injuries • Potentially • Occurs fatal more frequently in males Sickle-well Anemia • Abnormality • Cells in hemoglobin become sickle-shaped and clog blood vessels (painful) • Causes poor circulation,jaundice ,anemia,and hemorrhaging • Heterozygote to malaria • 8-10% carriers (Hh) not have disorder and are resistant of Africans (or descendants) are carriers HUNTINGTON disease •A GD which is caused by genetic mutation (FMR1) • Onset: • Brain 35-45 yrs old cells degenerate ,causing involuntary muscle jerks, slurred speech ,loss of balance ,mood swings ,memory loss ,incapacitation ALZHEIMER • Alzheimer is a nerve degeneration which is the reason caused dementia for old people • In corpuscle side , inside patient’s brain tissue start to assemble the B-amyloid CANCER • Cancer is a disease that occurs when cells in the body begin to divide at a faster rate than the body requires These rapidly dividing cells grow into a lump that is known as a tumor The tumor can be benign or malignant • In consequence of cancer , cell-body lost control of mitotic, grow significantly or to infinity ,until it breaks the membrane, and not respone to moderating signal , lost connection with other cells , lead to metastasis spread out to other body part Tuyên