Extension of mendels laws #2 Flashcards

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1
Q

complete dominance

A

when the dominant allele completely masks the recessive one

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2
Q

examples of complete dominance

A

~widows peck
~Hitchhikers thumb
~free ear lobe
~rolled tongue

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3
Q

incomplete dominance

A

when one allele is unable to completely mask the other, thus resulting in a third phenotype

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4
Q

examples of incomplete dominance?

A

~hair texture

~skin color

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5
Q

co-dominance

A

when contributions of both alleles are visible in the phenotype

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6
Q

example of Co-dominance

A

blood type

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7
Q

multiple alleles

A

while an individual carries only 2 alleles, there can be many alleles circulating in the population

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8
Q

explain blood type determination

A

the ABO blood type is controlled by a single gene located on the q arm of chromosome 9.
It has 3 types of alleles: IA, i, IB
This encodes for the glycosyl-transferase enzyme

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9
Q

if you have an IA allele what is expressed?

A

the glycosyltransferase allows the RBC to express the A carbohydrates

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10
Q

if you have i blood type what is expressed?

A

no carbohydrates

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11
Q

what antibodies do we make?

A

we make antibodies against the carbohydrates not present in the organism

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12
Q

AB is the ? O is the ?

A

universal acceptor

universal donor

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13
Q

what other factor other than ABO affects blood type

A

the Rh blood group system

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14
Q

Rh blood group system

A

5 antigens D,C,c,E,e are available. The Rh+ and Rh- refers only to the D antigen
A person with Rh- can donate to Rh+. but not the other way around

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15
Q

Erythroblastosis fetalis

A

is a hemolytic disease of the newborn, when the antibodies of the mother determine the lysis of fetal red cells causing anemia, hypoalbuminea, high output heart failure, Can be trated by an IV intrauterine blood transfusion

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16
Q

penetrance?

A

the proportion of individuals carrying a specific allele/genotype that express the associated phenotype

17
Q

complete penetrance

A

when 100% of individuals carrying the genotype express the phenotype

18
Q

expressivity

A

variations in a phenotype among individuals carrying a specific genotype

19
Q

pleiotropy

A

when one gene influences multiple apparently unrelated phenotypic traits, Cystic fibrosis

20
Q

cytogenetics. What are the 2 kinds?

A

is a branch of genetics that studies the structure and function of chromosomes.
Classic cytogenetics: analysis of banding chromosomes
Molecular cytogenetics: analysis performed at the molecular level: FISH, CGH

21
Q

karyotype

A

a picture of the chromosomes. They show the number and morphology . It is taken during metaphase of mitosis

22
Q

n means what?

A

means Homologs, as in the pairs of chromosomes

23
Q

heterosomes

A

sex chromosome

24
Q

autosomes

A

all non sex chromosomes

25
Q

what did fleming observe in 1880

A

chromosomes during mitosis

26
Q

Sutton(grasshoppers) and boveri (sea urchins) in 1902-1903 did what?

A

independently form each other they proposed the chromosome theory of inheritance

27
Q

the Sutton-boveri theory was debated till 1915, when - happened?

A

Thomas morgan provided his evidence based on drosophila

28
Q

explain studies on human karyotypes in 1950

A

Giemsa stained chromosomes and squashed between cover + slide. thought the 2n was 48

29
Q

giemsa

A

named after gustav giemsa, is specific for the phosphate groups of DNA

30
Q

when was 2n=46 established?

A

in 1956, by using a solution of colchicine : an alkaloid able to inhibit mitosis by disrupting microtubule polymerization

31
Q

when was the first obsevationthat diseases can devie from abberant # of chromosomes?

A

1959, a trisomy, Down syndrome

32
Q

the Denver conference on 1960 resulted in 4 statements

A

~ chromosomes are grouped in 7 sets of similarly sized and shaped chromosomes
~pairs are #red 1-22 (longest to smallest)
~sexual chromosomes X, Y
~the 7 groups were A-G

33
Q

when were banding techniques established?

A

1970

34
Q

when was he beginning of molecular cytogenetics?

A

1980