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Genetics > Unit 1 > Flashcards

Unit 1 Flashcards

1
Q

How many chromosomes would be present in a mature gamete if the organism has a diploid chromosome compliment of 12?

A

6

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2
Q

How many chromatids would be present in a cell at Metaphase II?

A

12

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3
Q

Morgan’s experiments on the white mutation in Drosophilia indicated…

A

that the ‘exceptional progeny’ not showing crosscross inheritance arose from nondisjunction

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4
Q

T/F: Mendel’s principle of ind. assortment does not apply to genes that are close together on the same chromosome (cmsm).

A

True

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5
Q

T/F: In birds, the female is the heterogametic sex?

A

True

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6
Q

Where is mRNA translated into protein?

A

ribosomes

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7
Q

Enough enzyme activity present from a single functional allele

A

haplosufficient enzyme

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8
Q

“Nothing from nothing ever yet was born…”

A

Lecretius (50 BC)

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9
Q

the concept that a tiny, preformed organism was transmitted from generation to generation

A

preformationism

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10
Q

Theory of Epigenesis (late 18th-19th century)

A

C.F. Wolff and K.E. von Baer: tissues and organs appear during development that are not originally present int he embryo

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11
Q

When did Darwin develop his theory to address variation he saw in population?

A

1838…not published for 21 years. Voyage of the Beagle was 1831-36

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12
Q

Natural Selection Arguments

A
  1. Organisms Vary
  2. Variation is inherited
  3. All organisms produce more offspring than can possibly survive and breed
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13
Q

Mendel: unit inheritance

A

factors are discrete and particulate entities; they are not mixed or diluted during inheritance

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14
Q

Mendel: Principle of Segregation

A

the paired factors segregate (separate) from each other in formation of gametes

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15
Q

Mendel: Principle of Inheritance:

A

Parental factors segregate at random (2 independent 3:1 ratios for each trait in a dihybrid cross)

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16
Q

(~1880): Studies in early insect embryogenesis showed a population of cells that arose early in development and gave rise to the gametes. who?

A

August Wesmann

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17
Q

Special type of cell division occurs in germ cells…meiosis:

A

E. Van Beneden, T. Boveri (1880s-1900)

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18
Q

characteristic of autosomal dominant inheritance (in pedigree chart)

A

1) affected individuals in every generation (1/2)

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19
Q

Achondroplasia and pseudoachondroplasia…what characteristics?

A

short-limbed dwarfism

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20
Q

autosomal recessive inheritance traits:

A

1/4 of children affected, trait “skips” generations

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21
Q

T/F: autosomal recessive traits may be associated with consanguinity (inbreeding)

A

true

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22
Q

talk about CMSM theory of inheritance:

A

1902: Sutton-Boveri Hypothesis…mendelian factors-genes- are located on cmsms

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23
Q

difference between meiosis between males and females:

A

Oogenesis: a single meiotic division gives rise to a single oocyte
Spermatogenesis: a single division gives rise to 4 mature sperm

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24
Q

Stage of Meiosis where oocyte remains at prophase of 1st m division for 15 to 50 years:

A

Dictyotene stage

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25
Q

When is 2nd meiotic division initiated for females?

A

after fertilization

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26
Q

in what species are males the heterogametic sex?

A

humans, fruitflies, mealworms

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27
Q

In drosophilia, XO =

and XXY =

A

male, female

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28
Q

In humans, what determines maleness?

A

Y cmsm…TDF…SRY which also encodes transcription factor

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29
Q

Typical X linked recessive pattern of inheritance:

A

males affected, disorder passed through female carriers

30
Q

Symptoms of Hypophophatemia:

A

short stature, bow-legs, lowered phophate levels in the blood. This is X linked dom.
males transmit to none of their sons and all of their daughters

31
Q

term for males passing on trait to all males

A

holandric (TDF or SRY gene)

32
Q

trait inherited as autosomal dom, but only one sex shows the triat (example is familial male precocious puberty)

A

sex limited trait

33
Q

pattern baldness- dominant trait that is more prominent in males than in females:

A

sex influenced inheritance

34
Q

If parents are heterozygous for an autosomal recessive disorder, what is the probability of having 2 normal and 2 affected children in a 4 child family?

A

27/128

p^4+4p^3q+6p^2q^2+4pq^3+q^4 = 1

35
Q

In 1902, who demonstrated that a human trait was transmitted according to Mendel’s laws?

A

A. Garrod

36
Q

Name trait:
inherited pattern of 3:1 for affected families (autosomal recessive)
Garrod-“disease due to a defect in enzymatic pathway”, “inborn error in metabolism” - first suggested that genes can code for enzymes

A

alcaptonuria

37
Q

phenotype of heterozygote can be distinguished from that of homozygote ie snapdragons

A

incomplete dominance

38
Q

for an organism w/ a diploid cmsm compliment of 12, how many chromatids would be present in a cell at meiotic metaphase I?

A

24

39
Q

Goal of 1st meiotic division:

A

segregate homologous copies of each cmsms

40
Q

goal of 2nd meiotic division:

A

distributes the identical copies (sister chromatids) that originated from cmsms replication

41
Q

Which of the following is true regarding sickle cell anemia screening done in the 1970s?
I. The screening tests for a disease that afflicts roughly 1 in 6000 African-Americans.
II. Due to insufficient educational followup, there was confusion, where some carriers mistakenly thought they had the disease.
III. Screening can only be performed on potential parents; a prenatal test is not available.
IV. Testing information was made available to employers and insurance companies, leading to denial of jobs and health insurance to some sickle cell carriers.

A

I. False; Frequency is 1/600 in U.S. populations;
II. True; educational follow up was lacking;
III. False; prenatal testing is available;
IV. True; information did get out to insurers and employers.

42
Q

Huntington Disease:
I. Is inherited as an autosomal recessive.
II. Was a disease gene mapped to human chromosome 4 in the 1980s, using molecular techniques.
III. Can be effectively treated, now that the molecular basis of the disease has been identified.
IV. Is classified as a late-onset genetic disorder, since the disease neurological phenotype is manifest only later in life

A

I. False; HD is an autosomal dominant
II. True; this was one of the first human genes to be mapped to a chromo- some using molecular markers;
III. False; a cure is still unavailable.
IV. True; symptoms of HD start to appear over time.

43
Q

protease inhibitor produced in liver; released into bloodstream.
required to prevent tissue damage from released cellular proteases.

A

Alpha-1-antitryspin Gene (A-1-A)

44
Q

released from WBCs during infections; must be inactivated by A-1-A

A

neutrophil elastase

45
Q

sugar residues attached as a post translational modification, changing mobility

A

glycoprotein ie A1A

46
Q

ABO blood groups exhibit this

A

codominance

47
Q

2 copies of a particular allele will lead to death of homozygous class during embryogenesis ie yellow locus of mice…1:1 ratio of yellow/normal

A

lethal alleles. in this case, A^y allele is dominant for coat color phenotype, but recessive for the lethality phenotype

48
Q

genetic heterogeneity example

A

albinism, which can lead to complimentation (mutations carried by parents found on different genes)

49
Q

protein deficiency leads to phenocopy (mimicry due to environmental affect) of albinism

A

Kwashiorchor…symptoms go away with protein intake

50
Q

the degree or severity that a given genotype exhibits its phenotype

A

variable expressivity ie anonychia, neurofibromatosis

51
Q

some individuals of appropriate genotype go undetected in population

A

reduced or incomplete penetrance ie Marfan syndrome (extreme height, long fingers)

52
Q

pleiotropy

A

numerous phenotypic effects caused by a single gene

53
Q

if the gene has been isolated, then nucleic acid probes can be used to identify differences in gene structure

A

southern blots

54
Q

mRNa levels (direct gene product) can be detected in tissues by nucleic acid probes

A

Northern blots

55
Q

isolated gene can be expressed in vitro to produce protein antigens….antibodies raised against the recombinant proteins can be used to detect the encoded protein product

A

western blots

56
Q

southern blotting process

A
  1. restriction enzymes break DNA
  2. frags separated by electrophoresis, and DNA is denatured
  3. Fragments transferred and then probed with a single stranded piece of a gene…detected by base paireing
57
Q

expression of lobe gene in different Drosophilia melogaster follows what pattern?

A

variable expressivity

58
Q

one gene modifying the phenotypic expression of a nonallelic gene when both genes are present in the genome

A

epistasis

59
Q

Dihybrid mods: gene action with 9:7 ratio

A

complimentary gene action ie x to y to z

60
Q

15:1 ratio…flower shape in shepherd’s purse

A

duplicate gene action (dominant allele at either A or B locus will get to phenotype Z) only aabb insufficient

61
Q

epistasis where a dominant allele at the B locus will block phenotype Y , and a dom allele at A locus will lead to Z

A

dominant epistasis (12:3:1 ratio)

62
Q

9:3:4 ratio signifies what?

A

recessive epistasis

63
Q

a result of the failure of sister chromatids to segregate during meiosis II

A

nondisjunction

64
Q

refuted by Pasteur’s famous “swan flask” experiment

A

spontaneous generation

65
Q

specialized chromosomal region where sister chromatids are connected

A

centromere

66
Q

formed during prophase I of meiosis, it contains a tetrad

A

synaptonemal complex

67
Q

T/F: Since the charge of the HbS protein differs from the HbA protein, HbS/HbA
heterozygotes can also be detected by using the technique of protein electrophoresis.

A

true

68
Q

T/F: was the process of meiosis, discovered by the Morgan laboratory in 1900, that convinced
scientists oth importance of Mendel’s observations in peas.

A

False

69
Q

Gregor Mendel:
a) was educated at the University of Vienna; b) was an Augustinian monk; c) corresponded with important
scientists in his field; d) all of the above; e) none of the above.

A

D all of the above

70
Q

concept that linked behavior of chromosomes in meiosis to behavior of Mendelian factors

A

Sutton-Boveri Hypothesis

71
Q

individual that brings genetic disorder to attention of clinician

A

proband

72
Q

proposed by Weismann, on basis of observations made during insect embryogenesis

A

germline reductional division

Genetics (6 decks)

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