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BIO 208 TERMS AND OBJECTIVES Objectives Unit 2 Ch 4, 11, 12, 13, 16s10

  1. Discuss the work of Gregor Mendel (Experiments in Plant Hybridization, 1865)
  2. Describe limitations in using humans as genetic subjects
  1. Describe the utility of Pisum sativum in monohybrid and dihybrid genetic crosses
  1. Describe experiments by which Mendel developed principles of: dominance, unit factors in pairs, random segregation of alleles into gametes, independent assortment
  1. Terms and concepts: true breeding, 1st and 2nd filial generations (F1, F2) , self fertilization, cross fertilization, genotype, phenotype, homozygous, heterozygous, dominant allele, recessive allele, gene, gene locus, reciprocal cross, gamete
  1. Complete problems illustrating 1 and 2 factor (monohybrid, dihybrid, test) crosses
  1. Calculate phenotypic and genotypic ratios using the forked line method (including trihybrid cross)
  2. Examine the use of a testcross in determining the genotype of an organism with a dominant phenotype.
  1. Utilize productrulein calculating probabilitiesof genetic events
  1. Recognize human pedigree symbols. Employ pedigree analysis to determine if a trait is inherited in an autosomal recessive, autosomal dominant, or sex-linked fashion.
  1. Use pedigrees to determine genotype of particular individuals and probability of passing on a particular allele to offspring
  1. Review the concept of one gene: one enzyme and Garrod’s work on inborn errors of metabolism (Ch 4)
  2. Examine genetic based enzyme pathway deficiencies including PKU, albinism, alkaptonuria(Ch 4)
  3. Examine autosomal dominant alleles for achondroplasia and polydactyly
  4. Provide appropriate nomenclature for wildtype and mutant alleles in Drosophila
  5. Investigate X- linked gene inheritance in humans and discuss the mechanism of criss-cross inheritance.
  6. Provide examples of X-linked genetic traits and complete problems in transmission of X-linked traits
  1. Solve problems illustrating incomplete dominance, codominance (MN blood group), and multiple alleles, (human ABO blood group system)
  1. Examine the effect of recessive lethal alleles on expected phenotypic ratios
  1. Examine gene interactions, epistasis, effects on 9:3:3:1 ratio of dihybrid cross. Complete problems.
  1. Define penetrance, expressivity, pleiotropy, polygenic traits (continous inheritance)
  2. Examine the effects of the environment on gene expression and phenotype (age on onset, sex, temperature and chemicals)
  1. Describe the chromosomal theory of inheritance
  2. Relate fertilization of egg by sperm with number of chromosomes in diploid organisms
  3. Distinguish between autosomes and sex chromosomes
  4. Compare sex determination systems for various animals including Drosophila and temperature determination in (some) reptiles.
  5. Investigate sex determination in humans and role of TDF and the SRY. Explain the existence of XY females and XX males.
  6. Analyze X chromosome inactivation using the following concepts: Barr body, dosage compensation (calico cat example of female mosaic).
  7. Relate thenumber of Barr bodies to number of X chromosomes in a cell
  8. Describe the cell-culturing technique of karyotyping.
  9. Review a karyotype to observe metacentric, submetacentric, acrocentric, chromosomes and p and q arms.
  10. Define: polyploidy, monoploidy, aneuploidy, deletion, inversion, translocation, duplication
  11. Note that autosomal monosomy is lethal in humans excepting partial monosomy, 46,5p- (Cri du Chat)
  12. Describe a position effect that may result from a chromosomal abnormality
  13. Analyze human aneuploid conditions 47, 21+, 45, XO, 47 13+, and euploid conditions 46, XX and 46, XY
  14. Explain how a Robertsonian translocation can result in familial Down Syndrome
  15. Compare amniocentesis and CVS (Ch 4)
  16. Spot generalities concerning the numbers of spontaneously aborted fetus versus live births of aneuploid individuals (handout)
  1. Employ binomial theory to determine probabilities of events (lab)
  1. Collect and statistically analyze data from corn with respect to transmission of gene traits (lab)
  2. Examine gene interactions in the cat (lab)
  3. Examine human single gene traits and perform pedigree analysis of autosomal recessive and autosomal dominant traits (lab)
  4. Utilize Chi Square analysis to determine goodness of fit of observed to predicted data (lab)
  1. Perform karyotype analysis of chromosomal aberrations (lab)
  2. Describe the translocation that leads to thePhiladelphia chromosome and CML cancer (lab)

Terms

Mendelian Genetics and extensions of mendel

ABO blood groups
Achondroplasia
Albinism
Alkaptonuria
Allele
Archibald Garrod
Autosomal dominant
Autosomal recessive
Branch (forked line method) diagram
Codominance
Conditional probability
CFTR gene and Cystic fibrosis
Dihybrid cross
Diploid and haploid
Dominance series of alleles
Epistasis
Expressivity
Fruit fly allele nomenclature
Gamete
Gene locus
Genotype and phenotype
Gregor Mendel
H factor
Heterozygous, homozygous dominant and homozygous recessive
Inborn error of metabolism
Incomplete dominance
Independent assortment
Lethal allele
Modified Mendelian ratio
Monohybrid cross
MN blood group alleles
Multiple alleles
Mutant allele / Neurofibromatosis 1
PKU pathway (includes albinism, PKU, alkaptonuria)
Parental, F1, F2 generation
Pedigree symbols
Penetrance
Phenotypic class
Phenylalanine hydroxylase
Piebald spotting
Pisum sativum
Pleiotropic effects
Product rule
Propositus
Quantitative traits
Random segregation
Reciprocal cross
Self- fertilization
Testcross
Trihybrid cross
True breeding
Wild type allele

Sex determination

autosome, sex chromosome
anhydrotic ectodermal dysplasia
calico cat
chromosome theory of inheritance
chromosome linkage group (24 in humans)
colorblindness
Barr body
criss cross inheritance of X chromosome
diploid
dosage compensation
female mosaic
hemophilia
heterochromatic
homogametic, heterogametic
linkage group
pseudoautosomal region of X and Y
random inactivation of X chromosome
ratio of autosomes/sex chromosomes (Drosophila)
SRY
Temperature determination of sex
TDF
Transgenic mouse
triploid
X-chromosome inactivation
XIC, Xist, on X chromosome
XX male, XY female
Y chromosome
Y system of sex determination
ZW system (birds) / Cytogenetics
acrocentric, metacentric, submetacentric chromosomes
amniocentesis
aneuploidy, euploidy, ppolyploidy (triploid and tetraploid)
autosome
centromere
chimera
colchicine (in preparation of karyotype)
cytogenetics
chorionic villus sampling (CVS)
deletion
Down syndrome, trisomy 21
familial Down syndrome
duplication – tandem and reverse
heterochromatin, euchromatin
inversion and position effect
karyotype
Klinefelter syndrome
monosomy, partial monosomy, Cri du Chat
p and q arms
polyploid
position effect of inversion
pseudodominance (in partial deletion)
pseudoautosomal region of X and Y
somatic mosaic
translocation and Robertsonian fusion
triploid
trisomy (21, 18, 13, X chromosomes)
Turner syndrome