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Warmup • What is Down Syndrome? • What does the word non-disjunction mean? (break down the word) • What is a mutation? • What is the difference between identical and fraternal twins? • Why are there so many variations among people? Genetics Unit Mutations • Errors in DNA sequence (bases) that results in wrong amino acids in the protein, thus changing the protein • Causes: – Radiation – Nuclear – UV rays – Certain chemicals – Certain foods can increase chances of mutations Mutations • Many types: – Changes in ploidy(humans are diploid2n) • 2 pairs of chromosomes – Nondisjunction – Insertions – Deletions – Duplications – Translocation Duplications Deletions Inversions Translocation What do we call the movement of genetic information between homologous chromosomes?crossing over Nondisjunction • When chromosomes fail to separate, so one gamete gets both chromosomes and the other gamete gets neither. Zygote now has 3 chromosomes instead of 2. • Aneuploidy insertion or deletion of just ONE chromosome – Having 1 chromosome #1 – Down syndrome (3 chromosome #21) • Polyploidy entire set of extra chromosomeshuman having 69 instead of 46 chromosomes. 3n (3 pairs) instead of 2n (2 pairs) Example of Nondisjunction • Example of Aneuploidy • Down syndrome – trisomy 21 (3 of chromosome #21) Name the type of mutation do not use your notes • ABCDEFGH – ABCDPFGH • ABCDEFGH – ABCFGH • ABCDEFGH – ABCDGFEH Sex chromosomes Males • XY chromosomes • Y is dominant • Males(sperm) determines sex of the baby Females • XX chromosomes • “Almost like” X is recessive to being female • Females do not determine sex, because they give an x no matter what Nondisjunction in sex chromosomes • “Turner’s syndrome” woman has only one X chromosome – Results in a short female with low intelligence and sterility • Klinefelter’s syndrome male with extra X chromosome (XXY) – Results in male with long arms and legs, low intelligence, and sterility • In both situations, individuals survive Gene Linkage • Genes come as a “package deal” • For example: – If your dad has 4 genes all on chromosome #4, dangling earlobes, tongue rolling, curly hair, and freckles. Therefore, you would inherit all 4 of his alleles for all 4 traits, and get none from your mom for those traits. Sex linkage • Traits that are found on the 23rd pair(sex) of chromosomes • Ex: color blindness, hemophilia • Usually are passed from mother to son, and father to daughter. X Chromosome Inactivation • Females have XX • One of those is turned off “randomly” • Results in some cells having turned off X and others having turned on X one from mother and one from father it is completely random which one gets turned off • Ex: Calico cats fur cells are either turned on, or turned off. Hairs that are orange have ben turned on and the black fur has been turned off. White is just the absence of any color on hair. This results in three different colors. – Male calico cats only have one X either orange and white or black and white… depending on which color is turned off in the X inactivationmales cannot be all three colors. Twins Fraternal • Two eggs released at same time • Fertilized by two separate sperm • No more alike than a normal brother and sister • Can be opposite sex Identical • One egg is released • fertilized by one sperm • Genetically identical • Cannot be opposite sex Twins Fraternal Identical Lethal genes • Genes that result in death • If egg contains gene, then baby will either be miscarried, or mother will never become pregnant • Average person has 7 • Lethal genes are recessive, so we have the lethal genes, but we have the dominant, so it does not change our phenotype Problem causing genes • Genetic Disorder- is a disorder that is inherited from parents and not based on the environment of pregnancy • These are not caused by drugs, radiation, alcohol, smoking. • Can be dominant or recessive, but in all cases, they are autosomal • Impt note: Dominant does not mean more common Huntington’s disease • Rare lethal genetic disorder inherited by autosomal dominant trait. • Causes jerky, uncontrolled movements of the head and limbs- results in mental deterioration or brain damage • No treatment. Symptoms don’t occur until individual is between ages 30 to 50. – Bad thing most people who have it, already have children and pass it on to children before they realize they have the disease Huntington’s disease Polydactyly • Having more than five fingers or toes on any given appendage • Is actually a dominant trait even though it is not common- which means it is recessive to actually have five normal digits Sickle Cell Anemia • Sickle-cell anemia -abnormal hemoglobin causes deformed red blood cells • Shaped like “sickles” instead of round (frisbee) shaped red blood cells can treat but not successful • Inherited as an autosomal recessive trait • Most common in African Americans originating from Africa, and white Americans who come from around the Mediterranean sea. • One out of twelve African Americans have the heterozygous form… • Caused by an insertion or deletion of a few alleles Muscular Dystrophy • Muscle weakness and loss of muscle tissue, which get worse over time. • Can be born with it, or it can show up later in life. • Loss in control of muscles • Signs: – Drooling, drooping eyelids – Loss in muscle size-very hard to tell, because the overall body part will appear larger, but most of the size increase is a buildup of fat. – Abnormally curved spine – Difficulty walking-possible clubbed feet – Mental retardation in severe cases Muscular Atrophy • Three major types: – Disuse atrophy-comes from the inability to use a muscle for whatever reason, possibly from injury – Neurological atrophy-nerve damage results in the inability to use a particular muscle, permanent damage. – ALS (Amyotrophic Lateral Sclerosis) or Lou Gehrig’s disease a degenerative disorder, inherited from family, in which the nervous system or brain stop communicating signals to your muscles-eventually the chest muscles will stop working, and breathing seizes. Cystic Fibrosis • An inherited genetic recessive disorder in which the body over produces mucus throughout the entire body. • Mucus lines every organ in the body, so this disorder really attacks every organ you have. • Lungs are affected first, and eventually lungs will fill with the sticky mucus, and breathing seizes. • Pancreas is affected also, and digestion is always difficult. • 1 in 25 people are heterozygous for the disorder • Caused by a single allele mutation Cri Du Chat syndrome • The syndrome gets its name from the characteristic cry of affected infants, which is similar to that of a meowing kitten • feeding problems because of difficulty swallowing and sucking, low birth weight and poor growth, severe cognitive, speech, and motor delays, behavioral problems such as hyperactivity, aggression, tantrums, and repetitive movements, unusual facial features which may change over time, excessive drooling, constipation, small head and jaw, wide eyes, skin tags in front of eyes • Deletion of one gene on chromosome number 5 Charcot-Marie-Tooth syndrome • progressive loss of muscle tissue and touch sensation across various parts of the body. Currently incurable, this disease is one of the most common inherited neurological disorders affecting approximately 1 in 2,500 people • Signs: – Loss of sensation in lower limbs – Highly arched foot – “stork leg” • Unknown mutation, but we do know it is inherited Angelman syndrome • is a neuro-genetic disorder characterized by severe intellectual and developmental disability, sleep disturbance, seizures, jerky movements (especially hand-flapping), frequent laughter or smiling, and usually a happy demeanor. • On chromosome number 15, the person inherits a normal copy of fathers genes, but the mothers gene may be mutated, and the mother’s overpowers the father’s. Prader-Willi syndrome • low muscle tone, short stature, incomplete sexual development, cognitive disabilities, problem behaviors, and a chronic feeling of hunger that can lead to excessive eating and life-threatening obesity. • The incidence of PWS is between 1 in 25,000 and 1 in 10,000 live births. • Similar situation as Angelmans syndrome. It is inherited the exact same way, but this time, the fathers mutation overpowers the mothers normal genes on chromosome 15. Galactosemia • Missing enzyme that breaks down galactose type of sugar; nervous system damage • Cannot break down any form of milk at all, human or animal • Shows up within the first few days of life • Brain malfunction, lower intelligence • Weak motor and sensory skills Phenylketonuria-recessive disorder • PKU-missing enzyme that breaks down certain chemicals that are in foodsphenylalanine into tyrosine amino acids • Babies born with PKU are normal at first, but once on milk (high in Phenylalanine) is consumed, baby develops abnormal brain function and mental retardation. • Now doctors perform tests right after birth, and if baby shows signs, then they give special milk, low in phenylalanine until brain develops treatable • More common in whites who’s descendants are from Norway or Sweden Tay Sachs Disease • Tay-sachs disease-recessive disease, where body is missing enzyme that breaks down fat-lipid • Fat accumulates in body resulting in blindness, muscle deterioration, and mental retardation of the central nervous system-brain, nerves • Symptoms occur within a year of birth, and death occurs before age 5. • No treatment for disease • More common in Pennsylvania Dutch and Jews Diabetes in young children (juvenile diabetes Type I diabetes) • Diabetes-body cannot produce enough insulin to control blood sugar • Insulin does not reach inside the cell, nor does glucose, so your cells are starving for sugar or glucose. • Signs are extreme hunger-body never feels full, extreme thirst, and rapid weight loss • Purposefully inject insulin inside cells Diabetes in middle aged people Type II diabetes • They have higher than normal levels of insulin and sugar in their blood. This is the form where the body has become resistant to insulin. So insulin does not break down sugar. • Diabetes does not come from overconsumption of sugar products. This is a myth. • Video Prenatal studies • Amniocentesis process of sampling amniotic fluid to test for many things, including genetic problems • Ultrasound formation of a picture done inside the womb to view the baby. • Fetoscopy the use of an endoscope to view internally