Digital Assets for Open Genetics
Module 0:
Introductions
Module 1: Gene
symbols module
v
Relevant chapter: 3
v
Submodules:
Ø
1.1 The
power of good labels
§
1.1.1 Video introduction The Power of Symbols
§
1.1.2 Exercise:
identifying pacemakers from
§
1.1.3 Challenge (ungraded): what kinds of
things might we desire to communicate using a gene symbol?
§
Outcome:
The student will be able to describe features of a powerful nomenclature
system.
Ø
1.2 Basic Nomenclature
§
1.2.1 Video description Nomenclature Systems
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Text links
¨
Page 3-2 section 3.2.1 (Terminology)
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Figure 3.2 page 3-2 (Mendel’s phenotypes)
¨
Table 3.1 page 3-3 (Examples of symbols)
¨
Section 3.2.2 on page 3-3 describes dominant
alleles as capitalized
·
Single letter
·
Subscripts
·
Superscripts
·
Slashes
§
1.2.2 Exercise:
which of the following are correct symbols for two alleles of the same
gene? (choose all which are correct)
§
1.2.3 Video demonstration of loci (unlinked)
·
Text references
¨
Figure 3.3 page 3-3 (Biochemical basis of
dominance)
¨
Figure 3.4 page 3-4 (Incomplete dominance;
subscript symbols)
·
Correlate to mitosis and meiosis
·
Context: only diploid cells need two letters
·
Biochemical function of a locus (gene)
·
haplosufficiency / haploinsufficiency
·
dominant / recessive
·
allelic series
§
1.2.4 Exercise:
identify linked genes from gene symbols
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1.2.5 Exercise: drag gene symbols into columns: unlinked / linked / series AND rows: dominant / recessive
§
Outcome:
The student will be able to recognize several standard nomenclature
systems.
§
Outcome:
The student will correlate the terms “dominant” and “recessive” with
biochemical action.
§
Outcome:
The student can create symbols that provide information consistent with inheritance
features.
Ø 1.3
Linked Genes
§ 1.3.1 Video demonstration linked genes
·
How to use a “slash”
·
How to use a semicolon
·
Distinguish “gene” from “allele”
·
Text references
¨
Table 3.1 on page 3-3 shows loci on homologues
using a slash
§ 1.3.2 Exercise: identify ploidy of cell images
§ 1.3.3 Exercise: identify cell cartoons of various ploidy
§
Outcome: the
student will be able to describe chromosomal positioning of genetic loci using
gene symbols.
Ø
1.4 Advanced Nomenclature
§
1.4.1 Video
demonstration of “the rules”
·
Base state or reference state is the “wildtype”
condition
·
Change from wildtype is a “mutant”. This forms the basis of the symbol chosen.
·
If the mutant phenotype cannot be determined
through not enough information, the symbol is based on the recessive phenotype.
·
In our system, choose three letters to form the
symbol. Always underline or italicize
these.
·
If a mutant allele is dominant, capitalize the
first letter. If a mutant allele is
recessive, use a lower case letter. The
subsequent two letters must be lower case.
·
The wildtype allele uses exactly the same
symbology as the mutant allele (including capitalizations) but is delineated as
a superscript “plus”. That is the only
difference between these symbols.
·
Text references
¨
Figure 3.9 page 3-7 shows w-/w+
system
¨
Section 3.2.2 on page 3-3 describes dominant
alleles as capitalized
¨
Section 3.2.4 on page 3-4 shows an allelic
series with “dominant” alleles as a capital; the recessive is lower-case.
§
1.4.2 Exercise:
given verbal descriptions, design a gene symbol using these rules
§
1.4.3 Exercise:
predict phenotypes from symbols given for diploid organisms.
§
Outcome:
the student can create symbols that maximize communication about genetic
features using a defined system.
§
Outcome:
the student will be able to predict phenotypes from genotypes described
using a defined system.
Ø 1.5
Sex Linked Genes
§ 1.5.1 Video explanation using cartoon
cells.
·
X-linked symbols
·
A new rule for a defined gene symbol system
·
Determining male
·
Determining female
·
Text references
¨
Section 3.5 (Sex-linkage: an exception to Mendel’s Fisrt Law)
¨
Figure 3.4 page 3-4 (Incomplete dominance;
subscript symbols)
§ 1.5.2 Exercise: given verbal descriptions, design a gene
symbol using these rules
§ 1.5.3 Exercise: predict phenotypes from symbols given for
diploid organisms.
§ Outcome: The student will include features of a
defined system to distinguish autosomes and sex chromosomes.
Ø
1.6 Summary:
§ 1.6.1 Video wrapup
·
Definition of a locus
·
Linked and unlinked genes
·
Context regarding gene symbols
¨
name after mutant phenotype or recessive
¨
indicate linked genes
¨
indicate sex linkage
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