BIO 208 TERMS AND OBJECTIVES
Objectives Unit 2 Ch 4, 11, 12, 13
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1. Discuss the work of Gregor Mendel (Experiments in Plant Hybridization, 1865)
2. Describe the utility of Pisum sativum in monohybrid and dihybrid genetic crosses
3. Describe the experiments by which Mendel developed the principles of: dominance,
unit factors in pairs, random (equal) segregation, independent assortment
4. Terms and concepts: true breeding, 1st and 2nd filial generations, self fertilization,
cross fertilization, genotype, phenotype, homozygous, heterozygous, dominant
allele, recessive allele, gene, gene locus, reciprocal cross, gamete
5. Complete problems illustrating 1 and 2 factor (monohybrid, dihybrid, test) crosses
6. Calculate phenotypic and genotypic ratios using the Punnett square and the forked
line methods (including trihybrid cross)
7. Utilize product and sum rules in calculating probabilities of genetic events
8. Employ binomial theory to determine probabilities of events (lab)
9. Utilize Chi Square analysis to determine goodness of fit of observed to predicted
data (lab)
10. Recognize human pedigree symbols. Employ pedigree analysis to determine if a trait
is inherited in an autosomal, recessive, dominant, sex-linked fashion.
11. Utilize a pedigree to determine the genotype of particular individuals and probability
of passing on a particular allele to offspring
12. Review the concept of one gene: one enzyme and Garrod’s work on inborn errors of
metabolism
13. Examine genetic based enzyme deficiencies in humans including PKU, albinism,
alkaptonuria, and cystic fibosis (chapter 4)
14. Examine autosomal dominant alleles for achodroplasia and polydactyly
15. Provide appropriate nomenclature for wildtype and mutant alleles in Drosophila
16. Investigate sex linked gene inheritance in humans and discuss the mechanism of
criss-cross inheritance.
17. Provide examples of X-linked genetic conditions
18. Complete problems illustrating sex-linked inheritance and explain why X-linked
recessive traits are more often observed in males.
19. Describe limitations in using humans as genetic subjects
20. Solve problems illustrating incomplete dominance, codominance (MN blood group),
and multiple alleles, (human ABO blood group system, C alleles for color in animals)
21. Examine the effect of recessive lethal alleles on expected phenotypic ratios
22. Examine gene interactions, epistasis, and effects on 9:3:3:1 ratio of a dihybrid cross.
Complete series of problems
23. Define penetrance, expressivity, pleiotropy, multifactorial traits
24. Examine the effects of the environment on gene expression and phenotype (age on
onset, sex, temperature and chemicals)
25. Describe the chromosomal theory of inheritance
26. Distinguish between autosomes and sex chromosomes
27. Compare sex determination systems for various animals
28. Examine sex determination in Drosophila, - females, males, and intersex flies.
29. Investigate sex determination in humans and role of tfm, TDF and the SRY. Explain
the existence of XY females and XX males.
30. Analyze X chromosome inactivation using the following concepts: Barr body, dosage
compensation, XIC, XIST gene (calico cat example of female mosaic).
31. Explain why Turner syndrome females (1X) affected developmentally while normal
males (1X) not?
32. Relate the number of Barr bodies to number of X chromosomes in a cell
BIO 208 TERMS AND OBJECTIVES
Objectives Unit 2 Ch 4, 11, 12, 13
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33. Describe the cell-culturing technique of karyotyping. Review a karyotype to observe
metacentric, submetacentric, acrocentric, telocentric chromosomes and p and q
arms.
34. Define: euploidy, polyploidy, monoploidy, and aneuploidy, deletion, inversion,
translocation, duplication
35. Explain why autosomal monosomy is lethal in humans excepting the partial
monosomy, 46,5p- (Cri du Chat syndrome)
36. Examine the relationship between gene duplication and the evolution of multigene
families
37. Describe a position effect that may result from a chromosomal abnormality
38. Analysze the human aneuploid conditions 47, 21+, and 45, XO, 47 13+ and euploid
conditions 46, XX and 46, XY
39. Explain how a Robertsonian translocation can result in familial Down Syndrome
40. Compare amniocentesis and CVS (chapter 4)
41. Perform karyotype analysis of chromosomal aberrations (lab)
42. Describe the translocation that leads to the Philadelphia chromosome and CML
cancer (lab)
43. Spot generalities concerning the numbers of spontaneously aborted fetus versus live
births of aneuploid individuals (handout)
BIO 208 TERMS AND OBJECTIVES
Objectives Unit 2 Ch 4, 11, 12, 13
s08
Terms
Mendelian Genetics and extensions of mendel
ABO blood groups
Neurofibromatosis 1
Achondroplasia
PKU pathway (includes albinism, PKU,
Albinism
alkaptonuria)
Alkaptonuria
Parental, F1, F2 generation
Allele
Pedigree symbols
Archibald Garrod
Penetrance
Autosomal dominant
Phenotypic class
Autosomal recessive
Phenylalanine hydroxylase
Branch (forked line method) diagram
Piebald spotting
Codominance
Pisum sativum
Conditional probability
Pleiotropic effects
CFTR gene and Cystic fibrosis
Product rule
Dihybrid cross
Propositus
Diploid and haploid
Quantitative traits
Dominance series of alleles
Random segregation
Epistasis
Reciprocal cross
Expressivity
Segregation
Fruit fly allele nomenclature
Self fertilization
Gamete
Testcross
Gene locus
Trihybrid cross
Genotype and phenotype
True breeding
Gregor Mendel
Wild type allele
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
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BIO 208 TERMS AND OBJECTIVES
Objectives Unit 2 Ch 4, 11, 12, 13
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
mosaic
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)
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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)
46XX. 45 XO mosaic
Turner syndrome