BMS240 Objectives

Question 1

1.1 Describe a basic cell type and basic chromosomal structure

Answer 1

.

Question 2

1.2 Describe the cell cycle

Answer 2

.

Question 3

1.3 Describe mitosis and meiosis

Answer 3

.

Question 4

1.4 Understand the genetic significance of each process

Answer 4

.

Question 5

1.5 Understand the two mechanisms that produce genetic variation during meiosis

Answer 5

.

Question 6

1.6 Understand the importance of mitosis and meiosis for humans and human disease

Answer 6

.

Question 7

1.7 Describe and explain Mendel’s laws using examples

Answer 7

.

Question 8

1.8 Understand the terms genotype, phenotype and associated nomenclature

Answer 8

.

Question 9

1.9 Apply the checkerboard/punnet square method for predicting offspring in a monohybrid ad dihybrid cross

Answer 9

.

Question 10

2.1 Understand the differences between the X chromosome and the Y chromosome in mammals

Answer 10

.

Question 11

2.2 Define the terms Kleinfelter, Turner, sex linked characteristics, X linked characteristics, Y linked characteristic, hemizygous, non disjunction, lyonisation and dosage compensation

Answer 11

.

Question 12

2.3 Describe the principle of lyonisation and its effect on the mammalian phenotype

Answer 12

.

Question 13

2.4 Understand the function of dosage compensation and describe the various ways dosage compensation is achieved

Answer 13

.

Question 14

2.5 Understand and describe in detail how dosage compensation is achieved in humans

Answer 14

.

Question 15

2.6 Define and describe the factors that complcate the pasic principles of genetics: co-dominance, penetrance, expressivity, sex influence and sex limited characteristics, anticipation and interaction between genes and envrioment

Answer 15

.

Question 16

2.7 Describe in detail one example of all of the above mentioned factors, using Bombay phenotype for recessive epistasis

Answer 16

.

Question 17

2.8 Define and explain using an example the following terms: cytoplasmic inheritance, genetic maternal effect, genomic imprinting, epigenesis, phenocopy and continuous trait

Answer 17

.

Question 18

3.1 Define and describe the terms pedigree, concordance, karyotype and consanguinity

Answer 18

.

Question 19

3.2 Understand the use ad construction of pedigrees and how they can be analysed

Answer 19

.

Question 20

3.3 Analyse simple pedigrees with respect to types of inheritance

Answer 20

.

Question 21

3.4 Describe in detail autosomal dominant, autosomal recessive, X linked dominant, X linked recessive and Y linked inheritance patterns

Answer 21

.

Question 22

3.5 Understand and describe the role of twin studies in genetics

Answer 22

.

Question 23

3.6 Understand the methods used in genetic screening

Answer 23

.

Question 24

3.7 Understand genetic counselling and genetic testing and the ethics involved

Answer 24

.

Question 25

3.8 Understand the types of genetic testing and the indicators used for each type

Answer 25

.

Question 26

3.9 Know two examples of human genetic disease that would lead to the recommendation of genetic testing

Answer 26

.

Question 27

4.1 Understand the concept of linked genes

Answer 27

.

Question 28

4.2 Understand and contrast the terms recombinant gamete and non recombinant gamete

Answer 28

.

Question 29

4.3 Understand the importance of the chromosomal location of a gene in linkage studies

Answer 29

.

Question 30

4.4 Describe how the concept of linkage can be used for human gene mapping

Answer 30

.

Question 31

4.5 Outline the processes and problems related to physical chromosome mapping

Answer 31

.

Question 32

4.6 Describe the four basic types of chromosome

Answer 32

.

Question 33

4.7 Understand and contrast using examples aneuploidy and polyploidy

Answer 33

.

Question 34

4.8 Understand and describe in detail chromosome rearrangements

Answer 34

.

Question 35

4.9 Describe fragile sites and their importance

Answer 35

.

Question 36

4.10 Understand the role of non-disjunction in the production of aneuploids

Answer 36

.

Question 37

4.11 Describe in detail the difference between familial down syndrome and primary down syndrome

Answer 37

.

Question 38

5.2 Outline and understand the results from the experiments performed by ‘Griffiths’, ‘Avery, MacLeod and McCarthy’, ‘Hershey and Chase’ and ‘Watson and Crick’

Answer 38

.

Question 39

5.3 Describe the four building blocks of DNA and RNA

Answer 39

.

Question 40

5.4 Describe in detail the primary and secondary structure a DNA molecule and an RNA molecule, including the orientation of the strands

Answer 40

.

Question 41

5.5 Understand and describe the principle of base-pairing and appreciate its importance in genetics

Answer 41

.

Question 42

5.6 Have a basic understanding of the flow of genetic information in a cell

Answer 42

.

Question 43

5.7 Define and use the terms: chromosome, chromatin, euchromatin, heterochromatin, telomere, centromere, nucleosome and supercoil

Answer 43

.

Question 44

5.7 Describe in detail the levels of higher order organisatio in chromatin

Answer 44

.

Question 45

5.9 Understand and describe te unique nature of the centromeres and telomeres

Answer 45

.

Question 46

5.10 Describe the evidence for changes in chromatin structure in relation to transcription

Answer 46

.

Question 47

5.1 Understand the role of DNA in the storage of genetic information

Answer 47

.