Genetics

Gregor Mendel Father of genetics Figured out mathematical formula to find inheritable patterns.

The Fugates French immigrant, Martin Fugate, moved to Kentucky in 1820 Married Elizabeth Smith and settled in the banks of Troublesome Creek They had 8 children, 4 were blue.

The Fugates From 1820 to 1930s, the family lived in relative isolation and marrying their relatives and/or other families close by, which included the Smiths, Combs, Ritchie, and Stacy. “Kissing cousins”

The Fugates It was not until 1962 when Luke Comb brought his ailing wife to the University of Kentucky Medical Center in Lexington that allowed doctors to research this odd disorder.

The Pedigree Chart

Terms Set-up Term Complementary Term Acquired- Inherited- Autosomal- Sex-linked- Homozygous- Heterozygous- Dominant- Recessive- Genotype- Phenotype- Gene- Allele- Codominance- Incomplete- Monohybrid Dihybrid Chromosome Karyotype Meiosis Gamete Homologous Pairs Independent Assortment Diploid Haploid Crossing over Nondisjunction Chromatid Centromere

Terms Acquired vs Inherited traits Acquired cannot inherit. Example: knowledge, calluses on fingers, larger muscles from exercising. Inherited is passed on through generations. However, the physical characteristic can skip generations. Example: hair color, stripes, eye color.

Terms Autosomal vs Sex-linked Autosomal - chromosome 1-22 Sex-linked - involving sex chromosome (#23) 23 pairs of chromosomes in humans 22 are automsomal, 1 is sex Karyotype

Examples Sex-linked diseases: hair loss Autosomal: Down syndrome

More terms… Gene - molecular unit of heredity in a living organism. Allele - 1 of 2 form of genes

More terms… Heterozygous vs Homozygous Heterozygous - receiving different alleles from parents (example: Bb) Homozygous - receiving same alleles from parents (example: BB or bb)

More terms… Dominant vs recessive Dominant - a genetic trait is considered dominant if it is expressed in a person who has only one copy of that gene (example: BB or Bb) Recessive - the recessive form is overpowered by its counterpart, or dominant, form located on the other of a pair of chromosomes (example: bb)

More terms… Genotype vs Phenotype Genotype - genetic makeup Phenotype - observable traits

Codominance vs incomplete dominance Codominance - both alleles show up in phenotype. i.e. blood. A, B, AB, O Incomplete - two different phenotypes produce a third phenotype

Genes and alleles B(dominant), b(recessive) - these are alleles Gene types BB = normal (both dominants) Bb = normal phenotype (recessive carrier) bb = blue (both recessive)

The Family Tree/Pedigree Chart Your challenge is to determine the genotypes of each individual on the family tree. If B stands for the normal gene and b for the "blue" gene, BB and Bb are normal and bb is "blue," write the genotypes for the individuals in the pedigree. If it is impossible to tell if the second gene is dominant or recessive, use a?. Martin Fugate _____ Elizabeth Smith _____ Zachariah Fugate _____ Levy Fugate    _____ “a Ritchie”         _____ Luna Fugate         _____ John Stacy       _____ Alva Stacy          _____ Hilda ????            _____ Benjy Stacy   _____ 2 1 3 4 5 7 6 8 9 10

PUNNETT SQUARE TIME!!! Martin Fugate (Bb) Elizabeth Smith (Bb) (work on probability)

Solution

Mutations are a good thing !!!!! Most of them are deadly and hurt or kill individuals, BUT random chance allows positive mutations to better survive, adapt, reproduce, and allow a species to exist. Example: 10% of white Europeans are immuned to HIV. There was a mutation that occurred with those that survived the Bubonic Plague (Black Death) in 1330s

The Fugates It turns out they have a rare genetic disorder called methemoglobinemia. Methemoglobin is a blue form of the red hemoglobin that carries oxygen. The blood in many of the descendants of the Fugates had accumulated so much blue molecule, turning them blue.

The Fugates After research and investigation by Dr. Cawein, a hematologist, he found that by giving methylene blue pills, it turned blue people pink.