Download Sex determination

BIO 208 TERMS AND OBJECTIVES Objectives Unit 2
Ch 4, 11, 12, 13, 16
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4.
Discuss the work of Gregor Mendel (Experiments in Plant Hybridization, 1865)
Describe limitations in using humans as genetic subjects
Describe the utility of Pisum sativum in monohybrid and dihybrid genetic crosses
Describe experiments by which Mendel developed principles of: dominance, unit factors in pairs, random
segregation of alleles into gametes, independent assortment
5. 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
6. Complete problems illustrating 1 and 2 factor (monohybrid, dihybrid, test) crosses
7. Calculate phenotypic and genotypic ratios using the forked line method (including trihybrid cross)
8.
Examine the use of a testcross in determining the genotype of an organism with a dominant phenotype.
9. Utilize product rule in calculating probabilities of genetic events
10. Recognize human pedigree symbols. Employ pedigree analysis to determine if a trait is inherited in an
autosomal recessive, autosomal dominant, or sex-linked fashion.
11. Use pedigrees to determine 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 (Ch 4)
13. Examine genetic based enzyme pathway deficiencies including PKU, albinism, alkaptonuria (Ch 4)
14. Examine autosomal dominant alleles for achondroplasia and polydactyly
15. Provide appropriate nomenclature for wildtype and mutant alleles in Drosophila
16. Investigate X- linked gene inheritance in humans and discuss the mechanism of criss-cross inheritance.
17. Provide examples of X-linked genetic traits and complete problems in transmission of X-linked traits
18. Solve problems illustrating incomplete dominance, codominance (MN blood group), and multiple alleles,
(human ABO blood group system)
19. Examine the effect of recessive lethal alleles on expected phenotypic ratios
20. Examine gene interactions, epistasis, effects on 9:3:3:1 ratio of dihybrid cross. Complete problems.
21. Define penetrance, expressivity, pleiotropy, polygenic traits (continous inheritance)
22. Examine the effects of the environment on gene expression and phenotype (age on onset, sex,
temperature and chemicals)
23. Describe the chromosomal theory of inheritance
24. Relate fertilization of egg by sperm with number of chromosomes in diploid organisms
25. Distinguish between autosomes and sex chromosomes
26. Compare sex determination systems for various animals including Drosophila and temperature
determination in (some) reptiles.
27. Investigate sex determination in humans and role of TDF and the SRY. Explain the existence of XY
females and XX males.
28. Analyze X chromosome inactivation using the following concepts: Barr body, dosage compensation (calico
cat example of female mosaic).
29. Relate the number of Barr bodies to number of X chromosomes in a cell
30. Describe the cell-culturing technique of karyotyping.
31. Review a karyotype to observe metacentric, submetacentric, acrocentric, chromosomes and p and q arms.
32. Define: polyploidy, monoploidy, aneuploidy, deletion, inversion, translocation, duplication
33. Note that autosomal monosomy is lethal in humans excepting partial monosomy, 46,5p- (Cri du Chat)
34. Describe a position effect that may result from a chromosomal abnormality
35. Analyze human aneuploid conditions 47, 21+, 45, XO, 47 13+, and euploid conditions 46, XX and 46, XY
36. Explain how a Robertsonian translocation can result in familial Down Syndrome
37. Compare amniocentesis and CVS (Ch 4)
38. Spot generalities concerning the numbers of spontaneously aborted fetus versus live births of aneuploid
individuals (handout)
39. Employ binomial theory to determine probabilities of events (lab)
40. Collect and statistically analyze data from corn with respect to transmission of gene traits (lab)
41. Examine gene interactions in the cat (lab)
42. Examine human single gene traits and perform pedigree analysis of autosomal recessive and autosomal
dominant traits (lab)
BIO 208 TERMS AND OBJECTIVES Objectives Unit 2
Ch 4, 11, 12, 13, 16
43. Utilize Chi Square analysis to determine goodness of fit of observed to predicted data (lab)
44. Perform karyotype analysis of chromosomal aberrations (lab)
45. Describe the translocation that leads to the Philadelphia chromosome and CML cancer (lab)
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BIO 208 TERMS AND OBJECTIVES Objectives Unit 2
Ch 4, 11, 12, 13, 16
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
Self- fertilization
Fruit fly allele nomenclature
Testcross
Gamete
Trihybrid cross
Gene locus
True breeding
Genotype and phenotype
Wild type allele
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
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BIO 208 TERMS AND OBJECTIVES Objectives Unit 2
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)
Ch 4, 11, 12, 13, 16
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
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