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77 Cards in this Set

  • Front
  • Back

How is genetic information organized?

DNA-> Genes-> Chromosome pair-> Cell Nucleus-> cells-> organism

What is a gene?

A unit of inheritable information (segments along a DNA)

Genotype

The composition of a gene, or set of genes, for an individual

Phenotype

The physical manifestation of a specific genotype

Gene expression

Going from genotype to phenotype. A particular gene turns on. Production of an endpoint product driven by information encoded in DNA

Central Dogma

Transfer of sequence (genetic) info between carrying molecules




replication


DNA------------------>RNA--------------------->PROTEIN


transcription translation

Assume that a single gene controls eye color.How many copies of the eye color gene doyou have?

2

An allele is:

A particular variant of a gene

In the diploid cells of an organism, there can be_________ different allele(s) of a given single-copynuclear gene.

Two. Can have one or two but only up to two

Forward Genetics

Start with phenotype to inform gene function

Reverse Genetics

Start out with gene, mutate it, then look at the phenotype

Which of the following are previous prevailing models ofinheritance?


A. Traits from both parents blend together in offspring


B. Blended traits are passed on to the next generation


C. Offspring are a combination of both parentsD. Offspring inherit traits from each parent in the form ofdiscrete particles


E. All of the above

E

Which of the following models are supported by Mendel’sexperiments?


A. Traits from both parents blend together in offspring


B. Blended traits are passed on to the next generation


C. Offspring inherit traits from each parent in the form ofdiscrete particles


D. Both A and B


E. None of the above

to be determined

blank

blank


True Breeding

homozygous (all progenies they create are same)

Test Cross

cross to homozygous recessive

Mendels 1st Law

Each parent has 2 characters (genes) ie. discrete particles.


-Each gamete gets on character


-That organism combines to get 2 traits (gametes combine)

Monohybrid

heterozygous for one gene trait (3:1)

Dihybrid

heterozygous for two genes/traits


(9:3:3:1)-phenotypes

Mendels 2nd Law

characters (genes) of a trait segregate independently of each other

Mendel also did experiments with the flowering plant‘Four-O-Clocks’. In this plant, yellow flowers are dominantto white flowers. When a certain yellow-flowered plantwas self-pollinated, its progeny consisted of 77 yellow- and25 white-flowered plants. What was the genotype of theoriginal yellow-flowered parent?


A. YY


B. Yy


C. yy


D. Either YY or Yy

B

What proportion of the 77 yellow-flowered progenyfrom the selfing will breed true?


A. 1/4


B. 1/3


C. 1/2


D. 2/3

B (?)

If the original yellow-flowered parent had beenused in a testcross (instead of selfing), what isthe expected genotypes, and proportions ofthe progeny:


A. 3/4 YY : 1/4 yy


B. 1/2 Yy : 1/2 yy


C. 3/4 Yy : 1/4 yy


D. 1/4 YY : 3/4 Yy

B

True or False?Mendel’s 2nd law, that characters (genes) of atrait segregate independently of each other, isalways true.

False

In mice, a recessive mutation in gene T (t) results in tail-lessanimals. A second unlinked recessive mutation in gene F (f)results in fat animals. Indicate the genotypes of the parentsof the following cross:


Phenotype of parents: Tail, Slim x tail-less, fatPhenotype of progeny: 24 Tail, Slim0 Tail, fat25 tail-less, Slim0 tail-less, fat


A. TtFf x Ttff


B. TtFf x ttFf


C. TtFF x ttff


D. Ttff x ttFf

C

Discontinuous trait

traits with only a few possible phenotypesthat fall into discrete classes.Example: all of the traits Mendel tracked

Continuous trait:

do not fall into discrete classes; a segregatingpopulation will show a continuous distribution of phenotypes.Example: height

Law of segregation

During meiosis, the alleles for each gene segregate fromeach other so that each gamete carries only one allelefor each gene




Aa-A


-a



Law of independent assortment

Different gene pairs (aka different chromosome pairs) assort independently into gametesduring meiosis



Mitosis


(be able to draw)

Interphase->Prophase->Metaphase->Anaphase->Telophase->Daughter Cells




Interphase (2N)->Prophase (4N) = DNA replication


Metaphase (line up)->Anaphase (separate poles)->Telophase (divide into two new cells) = Segregation




Left with two daughter cells (each 2N)

Which of the following statements are true?


A. Chromosome segregation patterns in mitosis are the basisfor Mendel’s law of segregation.


B. Chromosome segregation patterns in mitosis are the basisfor Mendel’s law of independent assortment.


C. Mitosis generates two daughter cells that are geneticallyidentical to the parent cell.


D. In mitosis, homologous chromosomes segregate away fromone another


E. All of the above

C


D not true because sister chromosomes not homologous chromosomes segregate away from one another; sister is AA or Aa, homologs are Aa

Synapsis

pairing of homologous chromosomes (in meiosis)

Crossover

physical linkage between homologs

Meiosis

Meiosis I- Interphase->Prophase 1-> Metaphase 1->Anaphase 1->Telophase 1


Meiosis II- Telophase 1->Prophase 2->Metaphase 2->Anaphase 2->Telophase 2->Products of meiosis




Meiosis 1:Interphase= replication; Metaphase 1= pairing; Anaphase 1 and Telophase 1= segregation


Meiosis 2: Metaphase 2->Anaphase 2->Telophase 2= segregation



Which of the following statements is true?


A. Homologous chromosomes associate only in meiosis.


B. DNA replication occurs only in mitosis.


C. Sister chromatids separate only in meiosis.


D. Chromosomes line up on the cell equator only inmeiosis.


E. DNA replication occurs twice in meiosis

A

A diploid cell contains three pairs of homologouschromosomes. Each pair is heterozygous for a pairof alleles: Aa, Bb and Cc respectively. After meiosis,how many different combinations of these allelescould be produced in the haploid gametes?


A. 2


B. 4


C. 8


D. 16


E. 64

C-8




B/C 2 x 2 x 2=8




___ x ___ x____ =




each one has two possible combinations

You’ve isolated a mutant defective in meiosis that displays unpairedhomologous chromosomes in meiosis I. For this mutant, what doyou predict the wild type gene encodes?


A. A protein required for kinteochore formationB. A protein that is part of sister chromatid cohesion


C. A protein that is part of the synaptonemal complex (SC)


D. A protein required for DNA replication.


E. All of the above

C- because synaptonemal complex is meiosis


SCC is mitosis

Non-Disjunction

the failure of homologous
chromosomes to segregate properly in meiosis

the failure of homologouschromosomes to segregate properly in meiosis

True or False: All traits will segregate the same regardless of whetherthey are inherited from the maternal or paternal parent.

False b/c some traits are linked to Y chromosome

Turners syndrome

XO



Klinefelter’s Syndrome

XXY

Wild type

most common variant

You are a fly geneticist and notice two different fly variants in yourbottles: one fly is uncoordinated (u) and the other fly has orange eyes(o). You are interested in determining the nature of these characters.You propagate the flies to obtain true breeding lines. You then crossan orange-eyed female to an uncoordinated male. You find thatall the F1 flies have brick-red eyes and are coordinated.Indicate all possible genotypes for the parents (P) and offspring (F1):


A. P: o/o; u/u (female) x o+/o+; u+/u+ (male) F1: o+/o; u+/u


B. P: o+/o+; u+/u+ (female) x o/o; u/u (male) F1: o+/o; u+/u


C. P: o/o; u+/u+ (female) x o+/o+; u/u (male) F1: o+/o; u+/u


D. P: o+/o+; u/u (female) x o/o; u+/u+ (male) F1: o+/o; u+/u


E. C and D

C

As a good geneticist, you perform the reciprocal cross (uncoordinatedfemales x orange-eyed males) and obtain red-eyed coordinatedfemales and red-eyed uncoordinated males. Based on thisinformation, indicate the genotype of parents (P) and offspring (F1):


A. P: o+/o+; Xu/Xu x o/o; Xu+/Y F1: o+/o; Xu+/Xu and o+/o; Xu/Y


B. P: o+/o+; u/u x o/o; u+/u+ F1: o+/o; u+/u


C. P: o/o; u+/u+ x o+/o+; u/u F1: o+/o; u+/u


D. P: u/u; Xo+/Xo+ x u+/u+; Xo/Y F1: u+/u; Xo+/Xo and u+/u; Xo/Y


E. C and D

A

Diseases due to a single mutation/gene(monogenic traits)

Cystic Fibrosis


Sickle-cell anemia


Huntington’s disease


Duchenne Muscular Dystrophy

Diseases due to multiple mutations/genes:

Cancer


Diabetes


Mental Disorders


Autism

What type of inheritance
is this?1 
A) Autosomal recessive
B) Autosomal dominant
C) X-linked recessive 
D) X-linked dominant 
E) None of these

What type of inheritanceis this?1


A) Autosomal recessiveB) Autosomal dominantC) X-linked recessive


D) X-linked dominant


E) None of these

A

Autosomal Recessive

Affected children often from unaffected parents.• On average 1/4 of children are affected in mating of 2 heterozygotes.


• Equal numbers of affected males and females.• Depending how rare the affected allele is, matings of affected individuals tounrelated, unaffected individuals usually produce normal offspring.Conversely, consanguineous marriages have a much higher chance to produceaffected offspring.

Autosomal Dominant

• Affected children have at least one affected parent.


• Usually 1/2 children are affected. Most dominant disease traits are rare so mostaffected individuals are heterozygotes.


• Equal numbers of affected males and females.• Except for the very rare case of a new mutation, unaffected parents do not produceaffected children (or the disease is not fully penetrant).

What type of inheritance
is this? 
 A) Autosomal recessive 
B) Autosomal dominant 
C) X-linked recessive 
D) X-linked dominant 
E) None of these

What type of inheritanceis this?


A) Autosomal recessive


B) Autosomal dominant


C) X-linked recessive


D) X-linked dominant


E) None of these

C

X linked recessive

• Many more males than females affected.


• None of the offspring of an affected male are affected.


• None of the sons of an affected male are affected or will pass on the disease allele.

X linked dominant

• Affected males have daughters that are all affected.


• Affected heterozygous females pass the disease to 1/2 sons and1/2 daughters. Most dominant disease traits are rare so thatmost affected individuals are heterozygotes.

What type of inheritance is this?
A) Autosomal recessive
B) Autosomal dominant
C) X-linked recessive 
D) X-linked dominant 
E) None of these

What type of inheritance is this?


A) Autosomal recessiveB) Autosomal dominantC) X-linked recessive


D) X-linked dominant


E) None of these

E

Creighton and McClintock:

Evidence that recombination of geneslinked on a chromosome occurs through physical exchange ofchromosome segments with its homologous partner

Linkage and Recombination

1. Parental phenotype is more common than recombinant inmost crosses.


2. During meiosis, some alleles assort together if they areadjacent to each other on the chromosome.


3. The closer two genes physically are on a chromosome, themore likely they segregate together in meiosis.


4. Recombinant progeny are produced by crossing over inmeiosis.

Crossing Over

When homologs pair at Meiosis 1, they exchange corresponding chromosome parts by breakage and reunion

Parental:

chromosome allele configuration is identical to what parent had- 2 or more genes

Recombinant

different combination of linked alleles than parents 

different combination of linked alleles than parents

True (A) or False (B)Crossing over is more likely to occur betweengenes that are farther apart on a chromosome.

True

You perform the cross:AB/ab x ab/aband obtain 1000 progeny in the following amounts:442 AB/ab 458 ab/ab46 Ab/ab 54 aB/ab. What is the map distance between these two genes?A. 10 cMB. 20 cMC. 40 cMD. 50 cM

A. 10 cM


46 + 54= 100


100/1000=.1


.1x100= 10

Gene Linkage

genes reside on the same chromosome ~in close proximity to each other

chiasmata

physical exchange in crossing over

Cis

WT (or mutant, as long as same 2 alleles) alleles are on the same homolog RT/rt

Trans

WT (or mutant) alleles are on opposite homologs Rt/rT

Recombination Frequency

The % for which you had recombination between the two loci

If genes are unlinked

1:1:1:1 parental to recombinant


Recombination Frequency >50%= unlinked


RF<50%= linked- 2 genes on same chromosome




distance is directly proportional to frequency (greater one distance is greater other)

RF from a three points cross allows us to determine

1. If genes are linked


2. if so, The physical distance between loci


3. The phsyical order of genes on a chromosome (or physical order of loci)

Solving three point cross problems

1. Define parental class


2. Define the double cross-over class - least frequent


3. Define order of loci in parents (informed by DCO) (gene that switched linkage= middle locus)


4. Determine linkage by add recombinants/ total # progeny

B

A

A

Interference

A crossover/region of the genome (reduces) affects the likelihood of another CO nearby




I=1-COC (coefficient of confidence)




COC=# observed DCO/expected DCO (based data)

D

D

Simple Trait


Pleiotropy


Complex Trait



Simple Trait- one gene-> one phenotype


Pleiotropy- one gene-> many phenotypes


Complex Trait- many genes-> one phenotype

B


each would have wild type copies of the other- called complementation

Complementation Test

allows us to sort mutants in groups (genes).


alleles of the same gene will NOT compliment


Mutations in different genes compliment