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Bio Exam Unit 8

Intro to genetics, human genetics, pedigrees, disorders, nondisjunction

QuestionAnswer
What are genetics? Study of heredity, or how traits are passed from one generation to the next
Who is the father of genetics? Gregor Mendel
What did Mendel experiment with to discover the basic principals of heredity? Pea plants
How many different traits of pea plants did Mendel experiment with? 7
What is P generation? Parents
What is F1 generation? 1st generation of offspring
What is F2 generation? 2nd generation of offspring
What is each feature controlled by? A gene
What does each gene control? A trait
What are alleles? Different forms of a gene
What are homozygous alleles? have 2 of the same allele (Purebreds)
What are heterozygous alleles? have 2 different alleles (hybrids)
What defines a dominant allele? ALWAYS shown if present (Expressed when in presence of recessive allele)
What defines a recessive allele? Hidden when with a dominant allele but expressed if homozygous
What is genotype? Genetic makeup in letters
What is phenotype? physical expression of a gene
What is Mendel's Law of Dominance? For each trait, an organism inherits two copies (two alleles) of a gene – one from each parent (If two alleles at a locus differ, then the dominant allele determines the appearance and the recessive allele has no noticeable effect)
What is Mendel's Law of segregation? Every individual has two alleles for each gene (The two alleles for the same trait separate during meiosis and end up in different gametes so that each egg or sperm gets only 1 of each allele)
What is Mendel's Law of independent assortment? Genes for one trait inherited separately from genes of another trait (Based on how the homologous pairs line up during metaphase)
What is the purpose of a test cross? To determine the genotype of an organism with a dominant phenotype
What is a dihybrid cross? Two traits are passed at the same time ( to determine the genotype of an organism with a dominant phenotype)
What is incomplete dominance? Neither allele in the pair is fully dominant (Heterozygote is a blend of the two trait; mix/intermediate)
What is an example of incomplete dominance? Red flowers crossed with white flowers produce pink offspring
What is codominance? Both alleles in the pair are dominant, so both alleles are expressed in the heterozygote (Heterozygote is a combo of both phenotypes of homozygotes)
What is an example of codominance? Type AB blood
What disease is affiliated with codominance? Sickle Cell Anemia
What is Polygenic Inheritance? two or more genes work together to control a single trait (Trait shows a wide range of varieties or spectrum of phenotypes)
What is a sex-linked gene? A gene located on either the X or the Y chromosome
What causes x-linked disorders? Defective genes on X chromosome
Can fathers give an x-linked allele to their son? No
What is an example of an environmental influence on allele? Siamese cat coat color is dependant on the temperature
What is a pedigree? Graphic representation of genetic inheritance
On a pedigree, what shape are females? Circle
On a pedigree, what shape are males? Square
What is autosomal? Gene for trait is on an autosome (non-sex determining chromosome)
What is X-linked? Gene for the trait is on the X chromosome
What is autosomal recessive? Traits will only be shown when the offspring has two copies of the recessive
What are four autosomal recessive disorders? Cystic fibrosis, albinism, Tay Sachs, and phenylketonuria (PKU)
What is cystic fibrosis? Abnormal amounts of mucus in lungs and abnormal cilia (hairs) in lungs (Death by age 20)
Is cystic fibrosis recessive, dominant, codominant, or x-linked? Autosomal recessive
What is albinism? Lack of pigmentation because of defective melanin production
Is albinism recessive, dominant, codominant, or x-linked? Autosomal recessive
What is Tay Sachs? Absence of enzyme that breaks down lipids causing lipids to build up in brain causing brain damage (death by age 5)
Is Tay Sachs recessive, dominant, codominant, or x-linked? Autosomal recessive
What is PKU? Absence of enzyme that breaks down phenylalanine so Phenylalanine builds up causing brain damage
How can PKU be treated? With a diet
Is PKU recessive, dominant, codominant, or x-linked? Autosomal recessive
What is Huntington’s Disease? Mutated huntingtin gene causing fatal degeneration of brain
When do symptoms of huntington's disease start to show? Age 30-50
Is Huntington’s Disease recessive, dominant, codominant, or x-linked? Autosomal dominant
What is Achondroplasia (Dwarfism)? Mutation in fibroblast growth factor receptor 3 (FGFR3) gene that affects bone growth
In dwarfism, what genotype does not survive? DD
Is dwarfism recessive, dominant, codominant, or x-linked? Autosomal dominant
What is red-green colorblindness? Defective red and green light receptors in eye
Is red-green colorblindness recessive, dominant, codominant, or x-linked? x-linked
What is hemophilia? Absence of blood clotting enzyme therefore blood doesn’t clot normally to stop bleeding
Is hemophilia recessive, dominant, codominant, or x-linked? x-linked
What is Sickle Cell Anemia? Red blood cells (RBCs) become sickle-shaped and carry less oxygen which slows blood flow/blocks blood vessels
Is Sickle Cell Anemia recessive, dominant, codominant, or x-linked? Codominant
How can Sickle Cell Anemia be beneficial? Sickle cell is a beneficial mutation to have in countries with malaria
Which chromosome pairs are the autosomes? 1-22
Which chromosome pair is the sex set? 23
What is a karyotype? A collection of your chromosomes found in a single somatic, diploid cell
What is nondisjunction? Failure of chromosomes to separate during meiosis
What is the result of nondisjunction? Gametes end up with too many or too few chromosomes
What are the two types of autosomal disorders? Trisomy and monosomy
What is a trisomy? Having one extra chromosome in every one of your cells
What is a monosomy? Having one less chromosome in every one of your cells
What is another name for Trisomy 21? Down's syndrome
What is trisomy 21? 3 copies of chromosome 21 (47 total)
What are the effects of trisomy 21? Weak muscle tone, heart defects, learning disabilities, heavy slanted eyelids
What is Turner Syndrome? Female with only one X chromosome, no secondary sex characteristics, and sterile
What is Triple X Syndrome? Female with extra X (47 total chromosomes); normal, but may have motor delays, exaggerated female attributes, limited fertility- but able to produce normal XX and XY children
What is Klinefelter Syndrome? Male with extra X chromosome, mixed secondary sex characteristics, and sterile
What is Jacob Syndrome? Male with extra Y chromosome, tall and thin, severe acne, antisocial, aggressive, or learning disabilities, exaggerated male characteristics
Created by: suiter.mayhew
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