Genetics Flashcards

1
Q

Classical assumption 1 about heredity

A
  • Heredity occurs within species. [people realized that heredity occurs within species only] you cannot create bizarre creatures by cross breeding. Species were maintained without significant change from the time of their creation.
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
2
Q

Classical assumption 2 about heredity

A
  • Direct transmission of traits.
    -They assumed that – Information on each body part was transmitted separately to
    the child and child formed once all information from each
    body part was gathered.
    – Assumed that male and female contribution resulted in
    blend of offspring eg. Tall father and short mother resulted in
    medium height children
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
3
Q

What was the paradox that the assumptions led to?

A

The question was: If there is no genetic variation entering a species from outside and if the variation in each species blends in each generation, then shouldn’t all members of the species develop the same characteristics? e.g. humans all looking the same after many generations. [paradox]

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
4
Q

Who was Koelreuter?

A

A German in 1760 who carried out hybridisation experiments with tobacco plants. The offspring appeared different from either parent. Crosses of the offspring [hybrids] resulted in further variation.
- The parent traits were NOT blended. The traits either resembled parents or grand parents. Sometimes the traits would be masked for a generation , and reappear in the next. # Alternative forms segregating among offspring

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
5
Q

Classical theories [assumptions 2] fail. How?

A
  • If it was as the second assumption stated, the direct transmission, How did Koelreuter get disappearance of trait in 1 gen. and reappearance in the next?
    -There was no blending of traits occurring.
  • Alternative forms were ‘segregating’ amongst offspring. i.e. one offspring was exhibiting hairy
    leaves, for example while another smooth leaves.
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
6
Q

Classical theories [assumption 1] fail. How?

A

[Assumption 1 = they said that you could not cross breed and get bizarre creatures]
During the T.A experiments, they crossed true-breeding peas, purple and white flowers. results were:
- All offspring of first cross had purple flowers
– Offspring of next cross had both color flowers
– Purple flowers predominated over white flowers[more purple]

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
7
Q

Early, pre-Mendel Genetic concepts.

A

– Some forms of inherited traits masked in one generation
– Forms of a trait segregate among offspring
– Some forms represented more frequently than others.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
8
Q

Gregor Mendel

A
  • Father of modern genetics
  • Carried out first Quantitative Studies.
  • Used garden pea
  • Expected segregation among offspring
  • There are many true-breeding traits, he studied only 7.
  • He used small plants, which are easy to grow and have short generation time.
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
9
Q

How was Mendel’s Experimental Design?

A
  • Allowed Several Generations of Self-Fertilization
    • Progeny produced only a single form of a trait
    • Assured that forms of traits were transmitted regularly
    • Conducted Crosses Between Alternate Forms of a Trait
    • Removed male parts from a flower with white flowers
    • Fertilized with pollen from plant with purple flowers
    • Performed reciprocal crosses white flower pollen on
    purple flower plant
    • Allowed Self-Fertilization of Hybrids
    • Allowed segregation of alternate forms of traits
    • Counted number of offspring of each type per
    generation
    • Quantification of results most important to studies
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
10
Q

Mendel’s Findings

A

First Filial (F1) Progeny Resembled One of the Parents
• Trait expressed in F1 called dominant
• Trait masked in F1 called recessive
• All seven traits had dominant and recessive forms
• Planted F1 Seeds To Produce F2 (Second Filial)
Generation
• Determined proportion of dominant to recessive
• Three-fourths of plants exhibited dominant form
• One-fourth of plants exhibited masked, recessive form
• Dominant: recessive ratio was close to 3:1 for all seven
traits• Subsequent Generations
• Recessive individuals bred true
• One-third of dominant individuals bred true
• Two-thirds of dominant individuals produced 3:1
progeny
• 3:1 ratio really 1:2:1 ratio, separating dominant
genotypes

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
11
Q

How did Mendel interpret his results?

A

Understood Four Things About Nature of Heredity:

  1. Alternatives of traits are inherited intact
  2. One form did not appear in F1 but reappeared in F2
  3. Pairs of alternative forms segregated among progeny
  4. Characteristic Mendelian Ratio of segregation is 3:1
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
12
Q

Mendel’s Model [summary]

A

Parents transmit factors that provide information
about traits
• Each individual contains two factors for each trait
• May code for same form or alternative forms
Alternate forms of factor called alleles
• Individual is homozygous when both alleles are the
same
• Individual is heterozygous when alleles are different
• Position of gene on DNA is called its locus
- Alleles from each parent do not influence one another
- Genotype is the totality of the genes (blueprint)
• Phenotype is the expression of the genes (outcome)
-

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
13
Q

The F1 Generation

A
Mendel's first cross = pp x PP
• Each parent can produce gametes of only its kind
• Purple gametes contain only P allele
• White gametes contain only p allele
• Resulting progeny all Pp,  all purple
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
14
Q

The F2 Generation

A

All are heterozygous, purple, cross = Pp x Pp

• Alleles segregate randomly in gametes, either P or p

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
15
Q

The Further Generations

A
Three kinds of F2 individuals
• Pure-breeding white flowers (pp)
• Heterozygous purple flowers (Pp)
• Pure-breeding purple flowers (PP)
• Closer examination of 3:1 ratio indicates 1:2:1 
genotypic ratio
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
16
Q

Mendels first law of heredity: the law of Segregation

A
  • Explained segregation without cellular knowledge
    • Behavior of alternative alleles
    • Alternative forms encoded by discrete alleles
    • Alternative alleles separate in gametes formation
    • Each gamete has equal possibility to get either
    allele
17
Q

Mendel’s Second Law of heredity: The Law of Independent Assortment

A

Genes located on different chromosomes assort
independent of one another
• Mendel picked traits on different chromosomes

18
Q

From Genotype –> Phenotype: How genes interact.

A

Complex genetic patterns: Difficult to determine phenotypic classes
Multiple alleles
There’s also gene interaction: where genes act sequentially or jointly.

19
Q

Modified Mendelian ratios

A

Epistasis: One gene modifies expression of the other gene.

Emerson 9:7 ratio

20
Q

Continuous variation

A

multiple genes act jointly – varying

heights of people

21
Q

Pleiotropy

A

Gene has more than one effect on phenotype.

22
Q

Incomplete dominance

A

Alternative alleles not dominant or recessive.

23
Q

Environmental effects

A

Modify gene products

24
Q

Chromosomes: sex linkage

A

Proof of Chromosomal Theory of Inheritance - Morgan 1910
• Discovery of mutant, white-eyed male fruit fly
• Crossed with wild type red-eyed female
• All progeny had red eyes, concluded red eye colour dominant
• Cross of F1 generation
• 3:1 ratio red to white eyes
• All recessive white eye flies were male
• Testcross F1 to white-eyed male
• 1:1:1:1 ratio
• Eye colour and sex equally represented
• Explanation: eye colour gene related to sex chromosome
• Eye Colour Gene Located on Sex Chromosome in Fruit Flies
• Two kinds of sex chromosomes, X and Y
• XX = female, XY = male
• Eye colour gene located on the X chromosome
• Sex linked trait

25
Q

Human genetic disorders

A
Sickle cell anemia
Hemophilia
Phenylketonuria
Cystic fibrosis
Tay-sachs disease

Variant Alleles May Be Produced by Mutations
• Detrimental alleles are generally rare in populations
• Can become more populous in isolated communities
• Are frequently homozygous recessive diseases
• Are maintained in populations in heterozygous carriers
• Genetic disorder: detrimental gene at high frequency in population

26
Q

Sickle-cell Anemia

A

Improper transport of oxygen due to defective haemoglobin
• Results from alteration in single amino acid
• Red blood cells become stiff and sickle-shaped
• Blood cells clog blood vessels, are unable to enter small vessels
• Disorder of homozygotes but heterozygotes slightly affected
• Most common disorder among those of African descent

27
Q

Cystic fibrosis

A

Most common genetic disorder in Caucasians
• 1 in 20 carry single copy of defective gene
• 1 in 1800 are homozygous recessive, exhibit disease
• Affected individuals secrete clogging mucus
• Defect in transport of chloride ions across membranes

28
Q

Non-disjunction involving Sex chromosomes

A

The X chromosome
• Produces XX gamete and O gamete
• XX plus normal X results in XXX individual
• Two Barr bodies, one active X
• Sterile, but otherwise normal female
• XX plus normal Y results in XXY individual
• Kleinfelter syndrome
• Sterile male with female characteristics
• O plus normal Y results in inviable YO individual
• O plus normal X results in XO individual
• Turner syndrome
• Sterile female with characteristic appearance
• The Y Chromosome
• Produces YY gametes
• YY plus normal X results in XYY individual
• Fertile males with normal appearance
• Greater numbers of individuals in penal institutions

29
Q

HUMAN ABNORMALITIES DUE TO ALTERATIONS IN

CHROMOSOME NUMBER

A

Primary Nondisjunction
• Caused by failure of chromosomes to separate in
meiosis
• Can result in severe abnormalities

30
Q

Down syndrome

A

Monosomics possess one less copy of an autosome
• Trisomics possess one extra copy of an autosome
• Most do not survive
• Down syndrome results from extra chromosome 21
• Affects physical and mental development
• Arises from primary nondisjunction during meiosis
• More likely to occur in pregnancy of older women

31
Q

Multiple Alleles

A

Most Genes Possess More Than Two Possible Alleles
• ABO Blood Groups
• Three alleles affect cell surface antigens
• Gene designated I
• Allele B codes for galactose
• Allele A codes for galactosamine
• Allele O codes for neither sugar
• A and B are codominant and can be expressed together
• A and B are both dominant over O

32
Q

Four phenotypes produced from three alleles

A

Type A: genotype AA or AO
• Type B: genotype BB or BO
• Type AB: genotype AB
• Type O: genotype OO