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Human Genetic Disorders And Karyotypes

What is a Karotype? A picture of the collection of chromosomes found in an individual’s cells Tells you the chromosome # of an organism 46 in humans Tells you the sex of an organism XX = Female XY = Male Can indicate whether or not a chromosomal abnormality is present.

Karyotype MALE FEMALE

Chromosomal Abnormalities Monosomy Trisomy the condition in which a diploid cell is missing a chromosome the condition in which a diploid cell has an extra chromosome

Nondisjunction Disorders Caused by an abnormal number of a particular chromosome

Types of Chromosomal Abnormalities Down Syndrome Extra 21st Chromosome Symptoms: Distinctive shaped eyes Cognitive heart abnormalities Simian folds Below average cognitive ability Protruding tongue Short limbs

Types of Chromosomal Abnormalities Turner’s Symdrome 1 X chromosome and no match Symptoms Short stature Webbed neck Broad chest Non-functioning ovaries sterility

Types of Chromosomal Abnormalities Klienfelter’s Syndrome 2 X chromosomes and 1 Y Most common chromosomal abnormality Symptoms Underdeveloped male sex characteristics Reduced fertility Slightly feminime characteristics Potential language impariment

Autosomal Recessive Disorders Requires the inheritance of two recessive alleles Error found on chromosomes 1 - 22

Cystic Fibrosis (CF) Monogenic Cause: deletion of only 3 bases on chromosome 7 Fluid in lungs, potential respiratory failure Common among Caucasians…1 in 20 are carriers Therefore is it dominant or recessive?

Sickle Cell Anemia An inherited, chronic disease in which the red blood cells, normally disc-shaped, become crescent shaped. As a result, they function abnormally and cause small blood clots. These clots give rise to recurrent painful episodes called "sickle cell pain crises".

Albinism Inability to make melanin which gives pigmentation to hair, eyes, and skin Mutation in the tyrosinase gene on chromosome #11 Tyrosinase is an enzyme that functions in the production of melanin Is it monogenic or chromosomal?

Phenylketonuria (PKU) One of the most common causes of mental retardation Mutation in gene for the enzyme phenylalanine hydroxylase on chromosome #12 This enzyme converts the amino acid phenylalanine to the amino acid tyrosine

Phenylketonuria or PKU People with PKU cannot consume any product that contains aspartame. PKU is a metabolic disorder that results when the PKU gene is inherited from both parents (recessive or dominant? Monogenic or chromosomal?) Caused by a deficiency of an enzyme which is necessary for proper metabolism of an amino acid called phenylalanine.

Tay-Sachs disease Monogenic, autosomal recessive Central nervous system degrades, ultimately causing death. Most common among people of Jewish, eastern Europe descent. About 1/30 American Jews are carriers of Tay-Sachs disease

Autosomal Dominant Disorders Require the inheritance of only one copy of the allele Found on chromosomes 1 - 22

Achondroplasia The most common form of dwarfism 1/25,000 births result in achondroplasia Caused by a mutation in the gene for the Fibroblast growth factor receptor 3 protein This protein functions in normal bone growth This gene is found on chromosome #4

Marfan Syndrome People with Marfan characteristically are tall with very long limbs and fingers It is believed that Abraham Lincoln had Marfan Syndrome Many times people do not know they have the disease and yet are susceptible to aortic rupture 1/5,000 people in the US have Marfan Syndrome Olympic star volleyball player Flo Hyman died of aortic rupture in 1986. Florida State University basketball player Ronaldo Pierce died of aortic rupture in 2004. Both had Marfan Syndrome.

Huntington’s Disease Huntington's disease (HD) is an inherited, degenerative brain disorder which results in an eventual loss of both mental and physical control. The disease is also known as Huntington's chorea. Chorea means "dance-like movements" and refers to the uncontrolled motions often associated with the disease.

X-Linked Recessive Females have to inherit two copies of the gene Males have to inherit one copy on the X from their mother

Hemophilia, the royal disease Hemophilia is the oldest known hereditary bleeding disorder. Caused by a recessive gene on the X chromosome. There are about 20,000 hemophilia patients in the United States. One can bleed to death with small cuts. The severity of hemophilia is related to the amount of the clotting factor in the blood. About 70% of hemophilia patients have less than one percent of the normal amount and, thus, have severe hemophilia.

X-linked Inheritance pedigree chart

Hemophilia About 18,000 people (almost all male) in the US have hemophilia 400 babies in the US each year are born with hemophilia In the 1980’s approximately 10,000 children were infected with HIV because of transfusions for hemophilia With proper treatment, hemophiliacs can live a normal life

Fragile X Syndrome Most common cause of genetic mental impairment Mutation in the Fragile X Mental retardation protein believed to help brain cells develop & function normally

Fragile X Syndrome In the promoter region for the FMR1 gene, there are CGG repeats In the normal gene there are 6 – 40 repeats In the abnormal gene there may be hundreds of repeats The more CGG is repeated the more severe the disease Heterozygous females make enough FMR to have normal intelligence 1/2000 males have Fragile X; 1/4,000 females

Fragile X