Human Heredity

Poll the Audience YOYO: A.B.C. List 3 Genetic Diseases/Disorders

Has one dominate gene. PP ZZ Ll Oo Dominate Disorders

Dwarfism

Polydactyl: Many Digets Syndactyly

Symrachyclactyly: Missing fingers

Familial Hypercholesterdemia Familial Hyper-cholesterolemia – High blood cholesterol and propensity for heart disease

Hypertension

Chronic Simple Glaucoma 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. Causes early death. Onset in middle age. Irregular gait Shaking Emotionally fragile Dementia

Neurofibromatosis Benign tumors in skin or deeper

Progeria Progeria – Drastic premature aging, rare, die by age 13. Symptoms include limited growth, small face and jaw, wrinkled skin, atherosclerosis, and cardiovascular problems but mental development not affected.

Recessive Disorders Has 2 recessive genes.

Examples of Recessive Disorders Tay Sachs Disease – Lacks of enzyme needed to break down lipids necessary for normal brain function. Common in Ashkenazi Jews Blindness, seizures, paralysis, and early death.

Congenital Disorders A congenital disorder, or congenital disease, is a condition before birth. Mental Retardation Club Foot Co-joined Twins Cleft Lip Down Syndrome

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Congenital Deafness and Blindness

Diabetes Mellitus

Albinism

Phenylketoneuria (PKU) Inability to break down the amino acid phenylalanine. Must cut protein from diet Results in serious mental retardation

Cystic Fibrosis Cystic Fibrosis – affects mucus and sweat glands, thick mucus in lungs and digestive tract that interferes with gas exchange, lethal.

Multiple Alleles There are more than 2 alleles for a trait Blood type in humans Blood Alleles? –A, B, O Blood Types? –Type A, Type B, Type AB, Type O

Rules for Blood Type A and B are codominant –AA = Type A –BB = Type B –AB = Type AB A and B are dominant over O –AO = type A –BO = type B –OO = type O

B. How many people are color blind ? A. What is color blindness? C. What careers can’t you do if you are color blind? D. Who is more likely to be color blind? Boys/girls? E. What are the most colors that color blind people can’t see? F. What countries have the most people that are color blind? G. Is there a cure for color blindness? Can it be prevented?

Can You see the Number? Colorblindness is an X-linked recessive trait.

Traits found on the X chromosome

Genetics The study of heredity and the variation of inherited characteristics

Heredity Passing on traits from parent to offspring.

Phenotype The physical characteristics of a trait. The one you see.

Genotype The genetic makeup of a trait

Alleles Any of several forms of a gene, that are responsible for hereditary variation. Height: Short –Tall Color Pink-white-mixed

Gamete Sperm or Ova (egg) that carries genetic that carries ½ the genetic material.

Zygote New creation formed by sperm and egg joining together

Homozygous Two identical alleles: WW or ww

Heterozygous Different alleles (traits) for a gene Ww

Dominant The trait, allele of a gene that is expressed – the one you can see if there is a dominant allele: W or Ww. aabb Bb BB Recessive Dominate

Co-dominance The heterozygous condition, both alleles are expressed equally 50/50 1:2 prob. Sickle Cell Anemia in Humans NN = normal cells SS = sickle cells NS = some of each

Sickle Cell Anemia The disease occurs in 1 out of 500 African Americans. The disease occurs in 1 out of 36,000 Hispanic Americans

Recessive The trait, allele of a gene that is NOT expressed – the one you CANNOT see unless there is 2 recessive alleles: aabb Bb BB R ecessive Dominate

Incomplete Dominance The heterozygous is a blend between the dominant and recessive. 75/25, 3 to 1 probability RR = redrr = white Rr = pink

Trait A genetically determined Characteristics: Phenotype Is from your Genotype

Karyotypes

Maps of chromosomes 22 homologous pairs of human chromosomes Sex Chromosomes are the 23 rd pair of chromosomes that determine the sex of an individual.

Changes in Chromosome Number and Structure Down syndrome is caused by a change in chromosome number.

Down syndrome (trisomy 21)

The Frequency of Chromosome Non-Disjunction And Down Syndrome Rises Sharply with Maternal Age The phenomenon is clear – the explanation isn’t.

// HOW BABY GROWS IN THE WOMB DURING PREGNANCY - How TWINS are made? (Triples, Quads)

Pre-Implantation Genetic Diagnosis (PGD) Removing a cell for diagnosis from a human embryo.

Amniocentesis and Chorionic Villus Sampling Many new techniques for learning about individual genes rather than whole chromosomes are available or under development.

Choose the sex of your child

Dolly: In 1996, Ian Wilmut cloned Dolly from an adult sheep

CopyCat In February 2002, researchers from Texas A & M reported the live birth of a cloned tabby. Researchers are interested in using cloned cats in AIDS research, since feline AIDS is a good model for human AIDS.

What kind of plants and animals have been cloned?