Basics Flashcards
List 3 things that homologous chromosomes have in common that would not be in common between nonhomologous chromosomes.
Same length, same centromere position, same genes (and bands)
What does “DNA” stand for?
Deoxyribonucleic Acid
Define Karyotype
An organized array of an individual’s chromosomes
Define Autosomes
All chromosomes other than the sex chromosomes (22 pairs, 44 chromosomes)
Define Dominant
The allele seen in the phenotype
Define Recessive
The allele not seen in the phenotype
Define Phenotype
Describes the appearance of an individual for a trait
Define Genotype
Describes the alleles that an individual has for a particular gene
Define Alleles
Forms of genes
Define Homozygous
2 of the same alleles for a gene
Define Heterozygous
2 different alleles for a gene
Define Carrier
Heterozygous for a gene (carrier for the recessive allele of the gene)
How many chromosomes are expected to be in the somatic cell of a normal human?
46
What was Carey Bostian’s contribution to genetics?
A geneticist and professor at NC State and created the class Genetics in Human Affairs
What was Wendell McKenzie’s contribution to genetics?
Taught Genetics in Human Affairs at NC State.
What was Gregor Mendel’s contribution to genetics?
1866
Found that discrete particles were passed from generation to generation.
Law of Random Segregation
Law of Independent Assortment
What was Friedrich Miescher’s contribution to genetics?
1869
First isolated DNA from white blood cells.
Called it “nuclein”.
What was Boveri and Sutton’s contribution to genetics?
1902
Observed chromosomes in meiosis.
Recognized that chromosome migration corresponded with the behavior of Mendel’s genes.
What was Avery, McCarty and MacLeod’s contribution to genetics?
Proved DNA is the genetic material and could transform bacteria from one type to another.
What was Watson and Crick’s contribution to genetics?
1953
Determined the structure of DNA
What was Franklin and Wilkins’s contribution to genetics?
X-ray diffraction studies of DNA
What was Chargaff’s contribution to genetics?
1951
DNA contains equal amounts of guanine and cytosine.
DNA contains equal amounts of adenine and thymine.
What was Tjio and Levan’s contribution to genetics?
1956
Successfully counted human chromosomes
Identify the meaning of AIDS and HIV. Some people say a baby “inherited AIDS from the mother”. Why is this incorrect?
AIDS: Acquired Immune Deficiency Syndrome is a disease of the immune system caused by infection with HIV: Human Immunodeficiency Virus.
It is not something that is geneticly passed from mother to baby.
How many chromosomes are expected to be in a gamete of a normal human?
23
Where is DNA located in a human cell?
Nucleus
Identify: centromere, chromosome, chromatid, metacentric, acrocentric, sub-metacentric, telomere
Centromere: Center dot of the chromosome
Chromosome: Top, bottom, with centromere in between
Chromatid: When 2 chromosomes are attached at the centromere, it’s one of those chromosomes.
Metacentric: Centromere in the center.
Sub-metacentric: Centromere is a little off center.
Acrocentric: Centromere is very off center.
Telocentric: Centromere is at the end
Telomere: End point of the chromosome.
What is a chromosome composed of and what are the percentages?
A chromosome is composed of approximately 15% DNA, 10% RNA and 75% protein.
What was thought to be the genetic material prior to the determination that DNA is the genetic material?
Protein
Give an example of a genetic disorder that is dominant to the normal type.
Osteogenesis Imperfecta,
Huntington’s Disease
Give an example of a genetic disorder that is recessive to the normal type.
Cystic Fibrosis,
Sickle Cell Anemia,
Tay Sach’s Disease
Give an example of a genetic disorder that is due to either too many or too few chromosomes.
Down Syndrome
What does the phrase “He is a carrier” of a genetic disorder imply about the individual’s genotype and phenotype and the inheritance pattern of the disorder?
The genotype is heterozygous for the alleles.
The phenotype does not show the recessive allele of the gene.
What is the “Genetics in Human Affairs” significance of having a dominant mutation?
Shows in the phenotype, has the disorder.
What is the “Genetics in Human Affairs” significance of being a carrier for a recessive mutation?
Does not show in the phenotype, does not have the disorder.
Identify basic symptoms, treatment options and genetic transmission of Marfan syndrome.
Genetic disorder of human connective tissue.
Tall with long limbs and long fingers.
Dominant.
Treatment is done as each problem arises.
Identify basic symptoms, treatment options and genetic transmission of Leber’s disease.
Loss of vision.
Mitochondrial mutation passed down by the mother.
Treatment is available if done early on.
Identify basic symptoms, treatment options and genetic transmission of cystic fibrosis.
Accumulation of thick mucus in lungs leading to respiratory infections and breathing problems.
Recessive mutation, chromosome #7.
Medication and machines help keep mucus out.
Identify basic symptoms, treatment options and genetic transmission of sickle cell anemia.
Abnormality in red blood cells.
Recessive.
People have to take folic acid daily.
Identify basic symptoms, treatment options and genetic transmission of PKU.
Accumulation of phenylpyruvic acid in brain leading to mental retardation.
Need phenylanaline, but can’t have extra.
Special diet.
Identify basic symptoms, treatment options and genetic transmission of albinism.
No melanin pigment.
Vision problems.
Identify basic symptoms, treatment options and genetic transmission of alkaptonuria.
Build-up of homogenistic acid in cartilage, urine, skin, and nails.
Can lead to joint, heart and hearing problems.
Identify basic symptoms, treatment options and genetic transmission of Tay Sachs disease.
Lysosomal storage disorder where fatty substance builds up in the brain and destroys nerve tissue.
Blindness, paralysis, death.
High in Jewish population.
Identify basic symptoms, treatment options and genetic transmission of osteogenesis imperfecta.
Brittle bones.
Treatment to strengthen bones.
Identify basic symptoms, treatment options and genetic transmission of Huntington’s Disease.
Degenerative neurological disease onset around 40 years old.
Dominant
No cure, but genetic testing is available.
Identify basic symptoms, treatment options and genetic transmission of Xeroderma pigmentosum.
Recessive genetic disorder where damage by ultraviolet light can not be repaired.
Treatment is avoiding exposure to sunlight.
Identify basic symptoms, treatment options and genetic transmission of galactosemia.
Can not metabolize sugar.
Eliminate lactose and galactose in diet.
Identify basic symptoms, treatment options and genetic transmission of Down Syndrome.
(aka Trisomy 21)
Physical and intellectual disabilities.
Distinguish between identical (monozygotic) and fraternal (dizygotic) twins.
Identical twins come from the same egg.
Fraternal twins come from 2 different eggs.
List the stages of mitosis in order and give a short description about what happens to the chromosomes in each stage.
Prophase: Chromosomes condense
Metaphase: Chromosomes align
Anaphase: Centromeres part and chromatids separate
Telephase: Spindle disassembles and nuclear envelope forms.
What are the stages of the cell cycle and what happens in each stage?
G1: Growth phase 1: Lots of gene expression
S: Synthesis of DNA
G2: Growth phase 2: Preparation for cell division
Mitosis: Produces 2 daughter cells that are identical to the parent cell.
Identify the function of each of the plasma membrane.
Separates interior of cells from the outside. Hydrophobic inside, hydrophilic outsides.
Identify the function of each of the mitochondria.
“Powerhouse”
Break down nutrients to make energy.
Contains DNA. Passed from mother.
Identify the function of each of the lysosome.
Remove and recycle garbage.
40 Digestive enzymes.
Identify the function of each of the Golgi body.
Package and process proteins and lipids.
Identify the function of each of the endoplasmic reticulum.
Transport network for molecules
Identify the function of each of the ribosome.
Assembly line where RNA is used to synthesize proteins into amino acids.
Identify the function of each of the nucleus.
The cell’s info center: Houses chromosomes and DNA
Identify the function of each of the cytoplasm.
Holds everything together.
