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MBG*2040
Genetics
151
Biology
Undergraduate 2
10/24/2013

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Term
phenocopy effect
Definition
A phenotype under environmental influence appears the same as a phenotype determined by the genotype.
Term
regulatory region
Definition
Determines when and how often transcription occurs.
Term
protein-encoding region
Definition
Specifies the amino acid sequence of a protein.
Term
promoter site
Definition
Site where RNA polymerase recognizes and binds on regulatory region.
Term
null allele
Definition
Lacks normal gene function. Non-functional protein is produced (if allele is in protein-encoding region) or no protein is produced (if allele is in the regulatory region).
*recessive
Term
amorphic allele
Definition
Lacks normal gene function. Non-functional protein is produced (if allele is in protein-encoding region) or no protein is produced (if allele is in the regulatory region).
*recessive
Term
Hypomorphic allele
Definition
Poor gene function. A poorly functioning protein is produced (if allele is in protein-encoding region) or reduced amount of regularly functioning protein is produced (if allele is in regulatory region).
*recessive
Term
hypermorphic allele
Definition
Negative phenotypic consequences due to increased gene expression. Due to over-production of a normal protein (if allele is in regulatory region) or protein with increased activity (if allele is in the protein-encoding region).
*dominant
Term
Neomorphic allele
Definition
Negative phenotypic consequences due to altered protein with new function or when altered protein interferes with wild type (allele always in protein-encoding region).
*dominant
Term
carrier frequency
Definition
2pq
The proportion of individuals in a population who have inherited a single copy of a specific recessive gene mutation.
Term
chromosome
Definition
dynamic pieces of chromatin that can alternate between tight and loose compaction.
Term
chromatin
Definition
Combination of DNA and protein that make up contents of the nucleus.
Term
Chromosome terrritories
Definition
specific regions of a nucleus occupied by chromosome
Term
karyotype
Definition
Number and appearance of chromosomes in a eukaryotic somatic cells (mitotic cells must be used for karyotyping)
Term
Giesma staining
Definition
Dark bands are often constituative heterochromatic regions. Light bands are euchromatic regions.
Term
Bird Sex Chromes yo
Definition
female: ZW
male: ZZ
*WW not viable :(
Term
Homogamatic
Definition
Sex of a species in which both chromosomes are the same. (XX)
Term
Heterogamatic
Definition
Sex of a species in which both chromosomes are NOT the same. (XY)
Term
Sex Chromes of reptiles and amphibians
Definition
XX/XY or ZW/ZZ or no sex chromosomes
Term
Sex of organisms that are not determined by sex chromosome are likely decided by:
Definition
environmental factors
Term
Haplo-Diplo sex determination
Definition
Haploids are male. Diploids are female
Term
Sex Chromes of ants, bees, and wasps.
Definition
Haplo-Diplo sex determination
Haploids are male (ex: drone bees) Diploids are female (ex: queen bees, worker bees)
Term
Drosophila sex determination
Definition
Male determining genes are autosomal while female determining genes are on the X chromosome.
Term
Drosophila with
6 autosomes + XX
Definition
fertile female
Term
Drosophila with
6 autosomes + XY
Definition
fertile male
Term
Drosophila with
6 autosomes + X
Definition
sterile male
Term
Drosophila with
6 autosomes + XXY
Definition
fertile female
Term
X-linked recessive traits
Definition

Person is affected if all X chromosomes carry allele.

i.e. XaX& XaY

Term
X-linked coat colour in cats as an example of X inactivation.
Definition

XoB - black

XoO - orange/yellow

XoBXoO - calico


*calico is the presense of black and areas on the coat.

Term
now take a break & breathe
Definition
you're doing great :)
Term

Drosophila eye colour as an example of X-linked traits

 

red eyes female x white eyed males

F1 ?

F2 ?

Definition

F1: all red eyed

 

F2: all females have red eyes

1/2 males have red eyes

1/2 males have white eyes

 

XrXr  XrXw  XrY  XwY

Term
Barr body
Definition
Inactivated X chromosome made up of heterochromatin. Occurs at random in early in embryonic development.

Each cell will express either maternal or paternal X chromosome and have the other as a Barr body
Term
dosage compensation
Definition
Inactivation of one of the X chromosome in XX females equalizes X-linked genes expression in males and females.
Term
Phenotypic mosaics
Definition
Different cells/tissues throughout the body will express maternal or paternal X chromosome.
i.e. red green colour blindness in one eye but not the other
Term
Independent assortment
Definition
When two genes are on different chromosomes or more than 50 map units apart on one chromosome the pairs separate independently during the formation of gametes.
Term
Tightly linked
Definition
Do not experience crossing over because they are so close on the same chromosome.
Term
Closely Linked
Definition
Less than 50 map units apart on the same chromosome. Crossing over may occur giving more options as to the types of gametes which can be produced.
Frequency of crossing over is a measure of distance between genes.
Term
formula to find distance between closely linked genes.
Definition
(total # of recombinants / total # of offsrping) x 100 = map units
Term
Result of dihybrid test cross if independent assorting
Definition
4 classes of offspring in equal frequency
1:1:1:1
Term
Result of a dihybrid test cross with tightly linked genes
Definition
Two classes of offspring with equal frequency.
1:1
Term
Result of a dihybrid test cross with closely linked genes
Definition
Four classes of offspring. Two with large frequency; two with small frequency.
Term
Examples of genes that are closely linked.
Definition

ABO blood and Nail-Patella Syndrome(rare autosomal dominant condition)

ABO <- 20 map units -> N/n


classic haemophilia and reg-green colourblindness are closely linked on the

X chromosome

H/h <- 10 map units -> CB/cb




 

 

Term
Simple Dominance
Definition
One of the alleles is completely dominant over the other.
i.e. Hets and homozygous dominant will be affected with dominant condition.
B- is black
bb is brown
Term
Complete Dominance
Definition
One of the alleles is completely dominant over the other.
i.e. Hets and homozygous dominant will be affected with dominant condition.
B- is black
bb is brown
Term
Incomplete dominance
Definition
Heterozygous phenotype is distinguishable from both homozygous phenotypes.
Term
partial dominance
Definition
Heterozygous phenotype is distinguishable from both homozygous phenotypes.
Term
semi-dominance
Definition
Heterozygous phenotype is distinguishable from both homozygous phenotypes.
Term
incomplete dominance of snap dragons
Definition

W1W1 = white

W1W2 = pink 

W2W2 = red  

Term
partial dominance of chickens
Definition

F1F= normal plumage

F1F= frizzled      

F2F= naked         

Term
semi-dominance of horses
Definition

C+C+ = sorrel/chestnut

C+Ccr = palomino        

CcrCcr = cremello         

 

 

Term
Dominant lethal genes
Definition

expressed in heterozygous and homozyogous dominant

 

i.e. Huntington Disease

Term
Recessive lethal genes
Definition

expressed only in homozygous recessive offspring

 

i.e. individual homozygous for Tay Sachs allele is unlikely to live past age 3

Term
variable expressivity
Definition
a range of phenotypes can be expressed by a genotype

i.e. polydactyly
Term
examples of autosomal dominant variable expressivity
Definition
polydactyly, split hand-foot disease, piebaldism,Huntington disease
Term
Huntington Disease
Definition
neuro-degenerative disease which causes loss of muscle coordination, cognitive decline, and dementia
Term
high frequency of Huntingtons disease in Lake Maracaibo area and Mauritis
Definition
Founder effect (many people in each of these areas can trace their HD to a single person)
Term
Allelic heterogenity
Definition
different mutations at the same locus can cause a similar phenotype.

*can explain variable expressivity in some diseases
Term
Cystic Fibrosis
Definition
phenotype: mucus clogs lungs and leads to infection and/or mucus clogs pancreatic ducts and leads to digestive problems

genotype: CF allele encodes a chloride channel protein. Many CF alleles are known.
Term
incomplete penetrance
Definition
An allele is nit expressed even though it is present in an individual.
Term
formula to find penetrance
Definition
penetrance = # affected / total # with allele
Term
Phocomelia as an example of phenocopy effect
Definition
Phocomelia is a genetic condition associated with shortening or absence of limbs. However certain drugs taken during pregnancy can lead to a similar phenotype.
Term
Pleiotrophy
Definition
A single gene can be responsible for a number of distinct and seemingly unrelated phenotypic effects.
Term
sickle cell anemia as an example of pleitrophy
Definition
Can be expressed as respiratory effects, sickled cells, stroke, chronic infections, joint pain, and/or enlarged spleen.
Term
cystic fibrosis as an example of pleiotrophy
Definition
mucus can lead to mucus build-up in the lungs (leads to infection) and/or mucus obstructing the pancreatic ducts (leads to digestion problems)
Term
Locus heterogeneity
Definition

Two individual genes can individually produce the same phenotype.

 

If individual is homozygous reccessive for only one gene wild type phenotype is observed.

Term
albinism as an example of locus heterogeneity
Definition

Many different genes can be associated with the lack of pigment associated with albinism

 

i.e. SS (extensive white)

W- (all white) 

cc (albino)    

 

Term
Gene interaction
Definition
Different combinations of alleles from two or more genes can results in different phenotypes (because of interactions at cellular or biochemical level).
Term
Epistasis
Definition
A type of gene interaction in which one gene seems to prevent the phenotypic expression of another.
Term
Epistatic
Definition
One gene has an over-riding effect on another.
Term
Albinism as an example of epistasis.
Definition

Gene C which controls coat colour is epistatic to all other coat colour genes when homozygous recessive.

 

i.e. AaBBcc = albino

Term
Sex-Influenced traits
Definition
Both males and females have these genes but expression of theses traits varies from males to females.
Term
Sex-Limited Traits
Definition

Both males and females have a gene but only one sex expresses the trait.

 

i.e. milk production, development of secondary sex characteristics

Term
crypto-orchidism as an example of sex-limited trait
Definition

autosomal recessive trait

in dogs

 

aa females are normal

aa males have undescended testes

Term
pattern baldness as an example of sex-influences traits
Definition

follows dominant pattern in males and recessive pattern in females

 (B= baldness allele)

B1B1 - males: normal; females normal   

B1B- males: affected; females normal 

B2B2 - males: affected; females affected

Term
Genetic Anticipation
Definition
Worsening of symptoms and earlier onset with each generation.

Seen in traits which have genes that can expand "accordion genes"
Term
Dynamic mutation
Definition
Trinucleotide repeats found within genes which can expand over generations.
Term
Myotonic Dystrophy as an example of dynamic mutation.
Definition
rare autosomal dominant disorder: CTG repeats
1-30 repeats = phenotypically normal
~50 repeats = eye problems
~100 repeats = muscular weakness
>200 repeats = sever muscular weakness and earlier onset
Term
Huntington Disease as an example of genetic anticipation
Definition
CAG repeats
~6-35 = normal
~36-100 = affected individual
> 100 = affected individual with early onset
Term
Fragile X Syndrome as an example of dynamic mutation/genetic anticipation
Definition
CGG repeats
~6-50 = normal
~50-200 = repeats still normal but offspring at risk
>200 = affected individual
*most common form of mental impairment in humans
Term
Repeats within the protein encoding regiion
Definition
Lead to long tracts of a single repeated amino acid. Resulting protein may:
- misfold/aggregate
- misfold and be degraded
- have a new function
Term
Repeats outside of the protein-encoding region
Definition
Typically create null alleles.
Term
Epigenetic effects
Definition
Chromosomal defects which do not alter the DNA sequence can alter gene expression.
Term
Epigenetics
Definition
Modifications in gene expression that are caused by heritable but potentially reversible changes to chromatin structure and/or DNA methylation.
Term
Changes to chromatin structure include:
Definition
Level of compaction.
De-acetylation of histones
Chemical modification to DNA (methylation)
Term
Chromatin structure changes which lead to transcriptional repression
Definition
DNA metylation
Histone de-acetylation
Term
Chromatin structure changes which lead to transcriptional activation
Definition
De-methylation of DNA
Histone acetylation
Term
Genomic imprinting
Definition
Parent specific epigenetic effects.

The modification of genes/chromosome regions for greater or lesser expression in one parent than the other
Term
Dwarf Igfb genes as an example of genomic imprinting.
Definition
mutant allele from father + normal allele from mother = dwarf

normal allele from father + mutant allele from mother = normal

*normal gene is methylated in mother
Term
Prader-Willi Syndrome and Angelman syndrome
Definition
involve deletion of region of chromosome 15 (parent-specific imprinted region)
Term
Prader-Willi Syndrome and Angelman Syndrome as an example to genomic imprinting
Definition
Prader-Willi: paternal deletion of c15
0r two maternal and no paternal c15 (both regions methylated)
Angelman: maternal delection of c15
or two paternal and no maternal c15 (both regions methylated )
Term
Uniparental disomy
Definition
2 chromosomes from one parent
Term
Frequency of causes of Angelman Disease
Definition
deletion: 65-70%
uniparental disomy: 5%
imprinting defect: 5%
mutation: 10%
Term
Frequency of cause of Prader-Will Disease
Definition
deletion: 65-75%
uniparental disomy: 20-30%
imprinting defect: 5%
mutation: 0.1%
Term
Transposable elements
Definition
Short sequences of DNA that change change position within the genome.
*can move into protein-encoding or regulatory region
*can exit completely or poorly
*can leave a copy behind when they exit
Term
Maize as an example of transposable elements
Definition
dark spots = normal allele
light spots = null allele
Term
Grapes as an example of transposable elements
Definition
normal allele = dark skin (noir/gris)
large transposon (10,000bp) in regulatoty region = light skin (blanc)
remnant of transposon (40-800bp)in regulatory region = red skin (rouge/rosé)
Term
Mendel's peas as an example of transposable element
Definition
transposable element in the middle of the gene leads to wrinkled mendel pea (no functional starch-brancing gene)
Term
mitochondrial DNA
Definition
Circular and double stranded.
Encode for proteins used only in the mitochondria.

Of maternal inheritance (sperm only transfer nuclear DNA)
Term
Human mtDNA
Definition
~17 kp (17,000bp)
37 genes
encoded 13 of over 3000 proteins used in the mitochondria.
Term
defects in oxidative phosphorylation are most likely to be due by
Definition
mutations to nuclear DNA
Term
Defects of oxidative phosphorylation due to mutations in mtDNA
Definition
MERRO Myoclonic Epilepsy and rapper red fiber disease
LHIN Leber's heriditary optic neuropathy
NARP neurongenic muscle weakness, ataxia, retinitis regmentosum
MELAS mitochondrial enceohalomyopathy, lactic acidosis, stroke-like symptoms
MMC maternally inherited myopathy and cardiomyopathy
Term
Heteroplasmic cells
Definition
proportion of mutant mitochondria (and other organelles etc) vary from cell to cell due to random segregation
Term
Percent of mutant mitochondria need for a cell/person to be affected.
Definition
80+%
Term
factors affecting gene expression in mitochondrial disorders
Definition
Number of mutant mitochondria per cell
Severity of mutation
Affect of mutation on energy production
Energy requirements of tissue involved
Term
Chloroplast DNA (cpDNA)
Definition
circular (usually) double stranded DNA
85 to ~ 300 kb
130 genes
encodes proteins used in photosynthesis
Term
plant egg transfers
Definition
nuclear DNA, chloroplasts and mitochondria
Term
pollen transfers
Definition
only nuclear DNA
Term
heteroplasmy
Definition
plant cell with two types of chloroplasts which are responsible for leaf variagation in certain plants.
Term
Leaf variagation
Definition
Different coloured zones on leafs
Appears as irregular mottling/spotting

Can be due to transposable elements or viruses.
Term
monoploidy
Definition
one set of chromosomes

i.e. male bees
Term
diploid
Definition
two sets of chromosomes

i.e. humans, most animals
Term
ployploidy
Definition
more than two sets of chromosomes
Many polyploids are sterile due to problems with pairing/segregation of homologous chromsomes.
i.e. 30-35% of flowering plants
Term
autopolyploids
Definition
All chromosome sets are identical and come from the same species

more growth/less seed production
Term
commercial banana as an example of polyploidy (and associated meiosis problems)
Definition
3N=33
Split into a mixture of trivalents, bivalents, and univalents.
Gametes with extra or lacking chromosomes are not viable
Term
allopolyploids
Definition
polyploids that result from crossing two or more (usually unrelated) species
Term
Bread Wheat as an example of allopolyploids.
Definition
wild einkeorn wheat (2N=14)
+
wild grass (2N=14)
=
Emmer wheat (2N=14) sterile
(4N=28) tetraploid fertile
Term
upland cotton as an example of polypliody
Definition
allotretraploid

American cotton (2N=26) + Old World Cotton (2N=26)
=
Upland Cotton s(2N=26) f(4N=52)
2N = amphidiploid
Term
amphidiploid
Definition
an interspecific hybrid having a complete diploid chromsome set from each parent form
Term
Triticale as an example of amphidiploid/polyploidy
Definition
Emmer wheat (4N=28) + Rye (2N=14)
=
Triticale (3N=21) two each N from emmer 1 from rye
double chromosomes (6N)=42
*has best qualities drom rye and wheat:
high protein, high lysins, heartiness in poor soil
Term
Golden Rice
Definition
Transgenic variety of rice that contain beta-carotene.
Two beta-carotene biosynthesis genes are inserted into the regular genome.
Term
Endomitosis
Definition
Sister chromatids separate but no cytokineses occurs.
i.e. if endomitosis occurs once it could result in a tetraploid liver cell
Term
Aneuploidy
Definition
Diploid gene which lacks a chromosome or has an extra chromosome.
*can be caused by meiotic nondisjunction
Term
Down Syndrome
Definition
extra 21 (2N=47)
96 % due to meiotic nondisjunction (80% oogenesis; 20%spermatogenesis.
4% due to translocations in one of the parents.
Short broad hands with palmar crease, short stature, mental retardation, broad head, round face, open mouth with large tongue, epicanthal fold.
Term
Patau Syndrome
Definition
extra 13 (2N=47)
avg lifespan 6 months
Mental deficiency, deafness, minor muscle seizures, clept lip/palate, cardiac abnoramalities, posterior heel prominence.
Term
Edward Syndrome
Definition
extra 18 (2N=47)
avg lifespan 3 months
congenital malformation of many organ, low set mal-formed ears, receding mandible, small mouth/nose, elfin appearance, mental deficiency, horseshow/double kidney, short sternum.
Term
Turner Syndrome
Definition
X- (2N=45) missing X
FEMALE with slow sexual development, sterility, short stature, webbing of skin in neck region, cardiovascular abnormalities, hearing impairment.
Growth Hormone therapy ad estrogen therapy at puberty
Term
Klinefelter Syndrome
Definition
XXY (2N=47)
MALE, subfertile, small testes, developed breasts, feminin-pitched voice, knock-knees, long limbs.
Term
Triple X
Definition
XXX (2N=47)
normal phenotype but can be taller and experience fertility problems.
Term
XYY
Definition
(2N=47)
normal phenotype but usually taller than average.
Term
XXXY & XXXXY
Definition
severe impairment
Term
Chromosome identification is based on:
Definition
Size
Centromere position
Banding patterns produced by different stains.
Term
Deletions
Definition
Two breaks in the chromosome, a small area is lost and the larg pieces rejoin.

Occurs during prophase
Term
Intragenic deletion
Definition
Deletions within a gene typically inactivate the gene
Null Mutation
Term
Multigenic deletion
Definition
Involve deletions of two or more genes.
Lead to deletion syndromes.
Term
Cris du Chat Syndrome
Definition
Deletion of tip of p arm of chromosome 5
Heterozygous for mutant allele are affected, homozygous for mutant allele are not viable.
Arises spontaneously in germ-line cells of a normal parent.
Feeding problems, poor growth, speech problems, cardiac defects, mental/motor impairment.
Term
Duplications
Definition
Extra copy of a gene or chromosomal region.
Duplicate genes can be adjacent or located in a novel location.
Gene mutation in these areas allow for many opportunities for divergent function.
Term
Pseudogenes
Definition
The dysfunctional relatives of genes that have lost their protein-coding ability or are otherwise no longer expressed in the cell.
Term
Multi-gene families
Definition
A set of several similar genes, formed by duplication of a single original gene, and generally with similar biochemical functions.
Term
Charcot-Marie-Tooth Disease as an example of duplication mutations.
Definition
Commonly caused by duplication of a large section of short arm of chromosome 17
Autosomal dominant
Many genes are associated with this condition most encode for peripheral myelin proteins.
Slow progressive deterioration/degeneration of peripheral nerves and muscle in foot/lower leg and hand/forearm.
Term
Paracentric Inversion
Definition
Inverted region does not include centromere.
Term
Pericentric inversion
Definition
Inverted region includes centromere.
Term
[image]
Definition

 

Paracentric

(inversion does not include centromere)

Term
[image]
Definition

 

Pericentric

(inversion does include centromere)

Term
4 gametes possible from inversion mutation during meiosis
Definition
1) normal (parental)
2) normal with inversion (parental)
3) & 4) Duplication and deficiency gametes (recombinants)
Term
Reciprocal Translocations
Definition
Usually the exchange of materials between non homologous chromosomes.
Term
Robertsonian translocations
Definition
Involve chromosomes 13, 14, or 21.
Term
Down Syndrome as an example of Robertsonian translocation
Definition
long arm of chromosome 21 joins with long arm of chromosome 14. Heterozygous carrier is phenotypically normal but their progeny may inherit an unbalanced trisomy 21.
Term
Unidirectional translocations
Definition
no clooooo
Term
Burkitt Lymphoma as an example of translocation mutations.
Definition
Often associated with reciprocal translocation of chromosome 8 & 14.
Places photo-oncogene cMyb from chromosome 8 beside a regulatory region of immunoglobin genes (i.e. 14).
Immunoglobin genes are highly expressed and cMyb genes placed beside this regulatory region will lead cMyb to be highly expressed as well.
Photo-oncogene encodes a protein which regulates the cell cycle and over-expression can lead to cancer.
Term
Heterochromatin
Definition
Highly condensed and gene poor chromatin typically found at the centromere and telemere.
No meiotic recombination.
Term
Euchromatic
Definition
Less condensed and gene rich chromatinfound on chromosome arms.
Recombination at meiosis.
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