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Genetic Mutations Mutations … • are changes in the genetic material • can be good or bad • can be on a single gene or the whole chromosome What is a karyotype? • Picture of your chromosomes • Arranged from largest to smallest • quickly identify chromosomal changes 4 Types of Genetic Disorders • Single gene – – – – – Change in the DNA sequence More than 6000 known disorders Autosomal or sex linked 1 in 200 births cystic fibrosis, sickle cell anemia, Marfan syndrome, Huntington’s disease Types of Genetic Disorders • Multifactoral – combination of environmental factors and mutations in multiple genes – more complicated – heart disease, high blood pressure, Alzheimer’s disease, arthritis, diabetes, cancer, and obesity Types of Genetic Disorders • Chromosomal – abnormalities in chromosome structure as missing or extra copies or gross breaks and rejoining – Down Syndrome Types of Genetic Disorders • Mitochondrial – rare type of genetic disorder – caused by mutations in the non-chromosomal DNA of mitochondria Genetic Disorders • On our chromosomes are a total of about 100,000 genes. Among these 100,000 genes, each person has on average 5-8 bad genes. However, these seldom have any effect at all. But sometimes there are serious errors in our genetic code and these can give us the blueprint for genetic disorder. When we have a serious genetic error, there are three primary ways that the error can be inherited (passed from generation to generation). These three patterns of inheritance are: • Dominant genetic disorders • Recessive genetic disorders • Sex-linked genetic disorders Dominant Genetic Disorders: • In the dominant genetic disorder pattern of inheritance, one bad gene from either parent will cause the genetic disorder. Since only one bad gene causes the disorder, if either parent has the disorder the chance of the child inheriting the bad gene and developing the disorder is 50% with each conception. Recessive Genetic Disorders: • To develop a recessive genetic disorder both parents must contribute the same defective gene. The parents usually don't have the disorder, but are carriers for the disorder. They carry one defective gene, which is recessive, and one normal dominant gene. Sex-linked Genetic Disorders: • These disorders occur due to errors in the 23rd pair of chromosomes (the chromosomes responsible for gender). These genetic disorders occur only in males. Since males have an XY sex chromosome combination, they are vulnerable to defects on their X chromosome that lacks a partner gene on the Y. These disorders do not appear in females (which are XX) because if one of the X chromosomes has an affected gene, the partner X chromosome carries a normal gene. In females, the other X will compensate any defect on one X. Since males get a Y, there is no compensation. Although the female can carry a defective gene, females do not develop the disorder – they are carriers for the disorder. Sex-linked Traits • Traits (genes) located on the sex chromosomes • Sex chromosomes are X and Y • XX genotype for females • XY genotype for males • Many sex-linked traits carried on X chromosome copyright cmassengale 14 Sex-linked Traits Example: Eye color in fruit flies Sex Chromosomes fruit fly eye color XX chromosome - female Xy chromosome - male copyright cmassengale 15 Sex-linked Trait Problem • Example: Eye color in fruit flies • (red-eyed male) x (white-eyed female) XR Y x XrXr • Remember: the Y chromosome in males does not carry traits. Xr Xr • RR = red eyed • Rr = red eyed R X • rr = white eyed • XY = male Y • XX = female copyright cmassengale 16 Sex-linked Trait Solution: Xr XR XR Xr Y Xr Y Xr XR Xr Xr Y 50% red eyed female 50% white eyed male copyright cmassengale 17 Other Genetic Disorders: • Other genetic disorders do not fall neatly into one of these three patterns. These involve having too many or too few chromosomes. Turners Syndrome 1 in 5,000 births 45 chromosomes X only #23 Monosomy Nondisjunction Turners Syndrome 96-98% do not survive to birth No menstruation No breast development No hips Broad shoulders and neck Cri-Du-Chat Syndrome 1 in 216,000 births 46 chromosomes XY or XX #5 Deletion of lower arm Cri-Du-Chat Syndrome Moon-shaped face Heart disease Mentally retarded Malformed larynx Normal lifespan Aniridia-Wilms Tumor Syndrome 1 in 50,000,000 births 46 chromosomes XY or XX #11 Deletion of upper arm Aniridia-Wilms Tumor Syndrome Mentally retarded Growth retarded Blindness Tumors on kidneys Short lifespan Thirteen Q Deletion Syndrome 1 in 500,000 births 46 chromosomes XY or XX #13 Deletion of lower arm Thirteen Q Deletion Syndrome Mentally retarded Deformed face No thumbs Heart disease Short lifespan Prader-Willi Syndrome 1 in 5,000,000 births 46 chromosomes XY=97% XX=3% #15 Deletion of lower arm Prader-Willi Syndrome Small bird-like head Mentally retarded Respiratory problems Obesity Short lifespan Eighteen Q Deletion Syndrome 1 in 10,000,000 births 46 chromosomes XY or XX #18 Deletion of lower arm Eighteen Q Deletion Syndrome Mentally retarded Heart disease Abnormal hands and feet Large eyes Large ears Normal lifespan Cat-Eye Syndrome 1 in 1,000,000 births 46 chromosomes XY or XX #22 Deletion of bottom arm Cat-Eye Syndrome Fused fingers and toes Mentally retarded Small jaw Heart problems Normal lifespan Four-Ring Syndrome 1 in 10,000,000 births 46 chromosomes XY or XX #4 Inversion Four-Ring Syndrome Cleft palate Club feet Testes don’t descend Short lifespan Down Syndrome 1 in 31,000 births 46 chromosomes XY=97% XX=3% #14/21 Translocation Down Syndrome Trisomy 1 in 1,250 births 47 chromosomes XY or XX #21 Trisomy Nondisjunction Down Syndrome Short, broad hands Stubby fingers Rough skin Impotency in males Mentally retarded Small round face Protruding tongue Short lifespan Patau’s Trisomy Syndrome 1 in 14,000 births 47 chromosomes XY or XX #13 Trisomy Nondisjunction Patau’s Trisomy Syndrome Small head Small or missing eyes Heart defects Extra fingers Abnormal genitalia Mentally retarded Cleft palate Most die a few weeks after birth Edward’s Trisomy Syndrome 1 in 4,400 births 47 chromosomes XX=80% XY=20% #18 Trisomy Nondisjunction Edward’s Trisomy Syndrome Small head Mentally retarded Internal organ abnormalities 90% die before 5 months of age Jacob’s Syndrome 1 in 1,800 births 47 chromosomes XYY only #23 Trisomy Nondisjunction Jacob’s Syndrome Normal physically Normal mentally Increase in testosterone More aggressive Normal lifespan ? Klinefelter Syndrome 1 in 1,100 births 47 chromosomes XXY only #23 Trisomy Nondisjunction Klinefelter Syndrome Scarce beard Longer fingers and arms Sterile Delicate skin Low mental ability Normal lifespan Triple X Syndrome 1 in 2,500 births 47 chromosomes XXX only #23 Trisomy Nondisjunction Triple X Syndrome Normally physically Normal mentally Learning disabilities Taller than average Behavior Problems Huntington’s Chromosome 4 mutation *involuntary twitching or movement *onset 40 yrs. *deterioration of the CNS that affects muscle control Sickle-cell Anemia Moon shaped RBC that has low hemoglobin • Shows up more often in African Americans; or whose ancestors once inhabited parts where malaria is a high risk. • Sickle-shaped cells clog capillaries so that cells cannot get oxygen and nutrition • Blood transfusions, pain killers, and drugs • Pain, strokes, jaundice. Cystic Fibrosis Chromosome 7 mutation • Affects mucus, salivary and sweat glands. • Many respiratory problems • Thick, sticky mucus in lungs and digestive tracts. Tay-Sachs • No Hex A enzyme • Recessive genetic disorder most often found in Jewish or eastern Europe origin. • Appears in children starting at 6 mo. • Child cannot metabolize a certain lipid which incases the CNS and prevents the brain from expanding. • Fat builds up in the brain causing blindness & paralysis • Death occurs in early childhood Hemophilia • Blood has less than 1% of the normal clotting factor • Bleeds longer because blood won’t clot. Color-blindness • Cones in the eye do not perceive certain colors • Most common form is reds/greens but some are brown/blue • Seen as gray