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Human Genetic Disorders- Caused by Gene Mutations Disorder Sex linked/ Autosomal Dominant/ Recessive Primary Defect Main Symptoms/ Life Expectancy (L.E.) Populations Commonly Affected/Frequency in births -Fatigue, wasting away of muscles, respiratory failure Duchenne Muscular Dystrophy Hemophilia Phenylketonuria Albinism Sex linked Sex linked Autosomal Autosomal Recessive Recessive Lacks clotting Factor VIII Recessive Defective form of enzyme phenylalanine Hydroxylase Recessive Achondroplasia “without cartilage formation” (Dwarfism) Autosomal - Defects in muscle protein; inactive/ absence of DYSTROPHIN -death of muscle cells and tissues Dominant - Absence of color in hair, skin and eyes. - defect in MELANIN production - Inability to convert cartilage to bone (in long bones) -mutation in growth factor gene (on chromosome 4) - loss of movement -Possible mental retardation -L.E.: late teens or early twenties- depends on degree -Bleeding without clotting normally -Random bleeding -Internal bleeding -L.E.: Unaffected if diagnosed early- can take up to 10 yrs. off normal -No ability to properly break down the amino acid phenylalanine -Delayed mental and social skills -Small head -Hyperactivity -Seizures/tremors -L.E.: Unaffected if treated properly (controlled by diet) -no pigmentation in skin, hair, eyes -Crossed eyes -Light sensitivity -Vision problems -Rapid eye movements -L.E.: Unaffected. -short stature (4’14’4) - Bowed legs - Prominent forehead, shortened arms & legs - Spine curvatures - Disproportionate head to body ratio - normal intelligence -L.E.: 10 yrs. Less than normal -1 out of every 3,600 male infants are affected -Affects all ethnicities. -400 babies a year diagnosed in U.S. (1/7000 males) -Affects all ethnicities. -1 out of 15,000 births -Occurs more in Ireland, Norway, Italy and China. -1 in 17,000 births in the U.S. -Affects all ethnicities. -1 in 15,000-40,000 births worldwide Huntington’s Disease Autosomal Dominant Sickle Cell Disease (Heterozygous advantage – increased resistance to Malaria) Autosomal Recessive - production of an inhibitor of brain cell metabolism - repeated codon for one amino acid in the brain - Nerve cells in the brain waste away. Red blood cells form an abnormal crescent shape due to defective polypeptide that makes up hemoglobin Cystic Fibrosis (Heterozygous advantage – increased resistance to typhoid – blocks entry of bacteria in the digestive system) Cataracts Polydactyly Tay-Sachs Disease Autosomal Autosomal Autosomal Autosomal Recessive Failure of chloride ion transport mechanism - gradual deterioration of brain tissue - uncontrolled movement - Often diagnosed in 30’s– 50’s - HallucinationsMoodiness-Dementia - Antisocial behavior -L.E.: 40-50 yrs. - Impaired circulation (clogging of capillaries) - organ damage - Abdominal pain -Bone pain -L.E.: Into 50’s and beyond -Thick, sticky mucus forms in the lungs and digestive tract - difficulty breathing -Coughing -Wheezing -Nausea/gas -L.E.: 35 yrs. 1/10,000 (European descent) -1 in 500 African Americans -More common in people of African, Mediterranean, Central/South American, Caribbean and Middle Eastern descent (1/12 are carriers) -1 per 2,000 births -Occurs mostly in Caucasians with European descent (1/25 carriers) Dominant -Abnormality in the shape or structure of the lens of the eye - The clouding of the natural lens of the eye -Faded colors -Cloudy or blurry vision -Glare -Poor night vision -L.E.: Unaffected Affects about 1 in every 10,000 births genetically -Statistics vary Dominant Oral facial digital syndrome and other diseases can lead to polydactyly. -The development of more than five digits per hand or foot -L.E.: Unaffected -About 170 per 100,000 births are affected -Affects African Americans more than other groups, 1 in 500 A deficient protein enzyme, called hexosaminidase.A (found in lysosome); causes deterioration of central nervous system -Gradual blindness and deafness -Seizures -Dementia -Slow physical and mental development -L.E.: Usually no older than age 5 Recessive -1/1600 (Jewish descent) Chromosomal Genetic Disorders Disorder Down Syndrome Chromosome Problem Trisomy of the 21st chromosome. Klinefelter Syndrome (XXy) Trisomy of the X chromosome. Turner Syndrome (X-) Nondisjunction of the X chromosome. Life Expectancy Main Symptom -75% of babies with down syndrome die before they are born Those who are born: -15% die before 1 yr. old -35% before 50 yrs. -50% live 50 and beyond -No reduced life expectancy. Intellectual disability with short stature, weak muscles and distinct facial features. Male development affected by appearing more feminine and having fewer masculine traits. (Infertility) -Up to 13 yrs. decreased life expectancy - Short stature and generally ovarian failure. (Infertility) Incomplete sexual development