Di truyền y học

BÀI 12 DI TRUYỀN Y HỌC ( DÒNG DÕI VỚI NHỮNG KHIẾM KHUYẾT ? ) Cellular Basis of Cancer Tế bào cơ bản gây ung thư What causes Cancer? Nguyên nhân gây ung thư là gì? ( Có thể do chất hóa học,vius hoặc vi khuẩn,có thể do bức xạ) Hanahan and Weinberg, Cell 100: 57, 2000 Apoptosi s Oncogene s Tumor Suppressor Inv. and Mets Angiogenesis Cell cycle Một số con đường gây ung thư CANCER AND GENETICS UNG THƯ VÀ DI TRUYỀN • Cancer: genome disease( Ung thư: Bệnh do gen) • Causes of genomic changes(Nguyên nhân của gen thay đổi) • Effects of genomic changes( Tác động của thay đổi gen) Chromosomal changes in the genome of cancer cells: tip of the iceberg (NST thay đổi trong bộ gen của tế bào ung thư: xuất phát tiềm ẩn lớn) Terminal Deletion http://www.tokyo-med.ac.jp/genet/cai-e.htm Ring Chromosome Robertsonian Translocation Deletion Reciprocal translocation IsochromosomesInsertion Inversion Duplication Tế bào hình lưỡi liềm Polymers of hemoglobin deform red blood cells Normal Sickle NORMAL ABNORMAL Named after this cutting tool… a sickle. Tế bào hồng cầu thường Tế bào hồng cầu hình lưỡi liềm Tế bào ung thư [...]... tính không bình thường c XYY individuals are male, and tend to be taller than average Fertility is sometimes affected d XXX individuals are usually normal women, although they may be slightly less fertile and a few have below average intelligence e Higher numbers of X and/or Y chromosomes are sometimes found, including XXXY, XXXXY, and XXYY The effects are similar to Klinefelter syndrome Consequences of... tế bào không ổn định Trisomy 21; 47,XX,+21 Constitutional cytogenetic abnormalities Thể trạng di truyền tế bào không ổn định DiGeorge Syndrome; chromosome 22 deletion Acquired cytogenetic abnormalities Thể trạng di truyền tế bào không ổn định Philadelphia chromosome; 46,XX,t(9,22) Acquired cytogenetic abnormalities Thể trạng di truyền tế bào không ổn định Inversion 16; 46,XY,inv(16) ... Polydactyly and Syndactyly Hypertension Hereditary Edema • Chronic Simple Glaucoma – Drainage system for fluid in the eye does not work and pressure builds up, leading to damage of the optic nerve which can result in blindness Huntington’s Disease – Nervous system degeneration resulting in certain and early death Onset in middle age Neurofibromatosis – Benign tumors in skin or deeper Familial Hypercholesterolemia... Nervous system destruction due to lack of enzyme needed to break down lipids necessary for normal brain function Early onset and common in Ashkenazi Jews; results in blindness, seizures, paralysis, and early death • • Constitutional cytogenetic abnormalities Thể trạng di truyền tế bào không ổn định Robertsonian translocation; 45,XX,rob(13,14) Constitutional cytogenetic abnormalities Thể trạng di truyền. .. (soft palate) The vast majority of hemangiomas fall into the category of port-wine stains or small “birthmarks”, with only 15% being of the tumor variety or needing medical intervention To remove some protruding hemangiomas surgically would result in bleeding to death As the blood vessels in the area die, part or all of the mass can be removed Laser surgery has been extremely effective for hemangiomas…even... rarely grow over 4’ 10” tall Dwarfism is a genetic/genetic linked disorder All forms of dwarfism are characterized by small stature The overwhelming majority of these individuals enjoy normal intelligence, normal life spans, and reasonably good health Medical problems are often linked to orthopedic complications Examples of Autosomal Dominant Disorders Ví dụ một số bệnh do NST • • • • Dwarfism Polydactyly... Inability to break down the amino acid phenylalanine Requires elimination of this amino acid from the diet or results in serious mental retardation • Galactosemia – enlarged liver, kidney failure, brain and eye damage because can’t digest milk sugar Cystic Fibrosis – affects mucus and sweat glands, thick mucus in lungs and digestive tract that interferes with gas exchange, lethal Tay Sachs Disease... Features: Female phenotype Short stature Webbing of the neck Small, widely-spaced nipples Juvenile sexual development Hội chứng Klinefelter b XXY individuals, who are male and have Klinefelter syndrome Other traits include: i Above average height ii Breast development in about 50% of XXY individuals iii Subnormal intelligence in some cases XXY_ Hội chứng Klinefelter Male Often unusually tall; long arms... aneuploidies include: a XO individuals, who are sterile females exhibiting Turner syndrome Most XO fetuses die before birth Surviving Turner syndrome individuals become noticeable at puberty, when secondary sexual characteristics fail to develop Other traits include: i Below average height ii Weblike necks iii Poorly developed breasts iv Immature internal sexual organs v Reduced ability to interpret spatial... propensity for heart disease Progeria – Drastic premature aging, rare, die by age 13 Symptoms include limited growth, alopecia, small face and jaw, wrinkled skin, atherosclerosis, and cardiovascular problems but mental development not affected • • • • Examples of Autosomal Recessive Disorders Ví dụ một số bệnh do NST • • • • • Congenital Deafness Diabetes Mellitus Sickle Cell anemia Albinism Phenylketoneuria . BÀI 12 DI TRUYỀN Y HỌC ( DÒNG DÕI VỚI NHỮNG KHIẾM KHUYẾT ? ) Cellular Basis of Cancer Tế bào cơ bản g y ung thư What causes Cancer? Nguyên nhân g y ung. Inv. and Mets Angiogenesis Cell cycle Một số con đường g y ung thư CANCER AND GENETICS UNG THƯ VÀ DI TRUYỀN • Cancer: genome disease( Ung thư: Bệnh do gen)