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Genetics > Exam 1 > Flashcards

Exam 1 Flashcards

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1
Q

What is particulate inheritance?

A

The idea that there are physical entities passed on from parent to child

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2
Q

What are the phenotypic and genotypic ratios in a test cross?

A

1 Cc:1 cc and 1:1 phenotype

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3
Q

What is Mendel’s 1st Law?

A

Genes come in homologous pairs that segregate from each other into gametes so that half the gametes carry one member of the pair and the other half of the gametes carry the other member (in meiosis)

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4
Q

What happens in Interphase?

A

DNA is replicated

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5
Q

What is the G1 phase?

A

Gap between mitosis and start of DNA synthesis

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6
Q

What is the G0 phase?

A

Resting phase of variable duration

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7
Q

What is the synthesis?

A

DNA synthesis occurs and there are visible sister chromatids

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8
Q

What is the G2 phase?

A

Gap between DNA synthesis and mitosis that is the shortest phase

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9
Q

What is mitosis?

A

Cell division in somatic cells to produce identical daughter cells

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10
Q

What happens in prophase?

A

Chromosomes condense

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11
Q

What happens in metaphase?

A

Sister chromatids move to the center of the cell

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12
Q

What happens in anaphase?

A

Sister chromatids are pulled to opposite ends of the cell

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13
Q

What happens in telophase?

A

Separation of sister chromatids is complete, nuclear membrane reforms, and cell divides into two daughter cells

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14
Q

What are the differences between mitosis and meiosis?

A

Mitosis produces identical diploid daughter cells and is 1 division and meiosis produces 4 haploid gamete cells and goes through 2 divisions

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15
Q

What are sister chromatids?

A

Identical chromosomes produced by DNA synthesis

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16
Q

What is a centromere?

A

Specialized DNA sequence on each eukaryotic chromosome that attaches the chromatids

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17
Q

What is a kinetochore?

A

Multi protein complex that binds the centromere and is where the spindle fibers attach

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18
Q

What is bidirectional?

A

The two kinetochores on the paired sister chromatids face opposite directions so they can pull to opposite ends of the cells during mitosis

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19
Q

What is unidirectional?

A

The kinetochores on paired sister chromatids orient side-by-side

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20
Q

What are spindle fibers?

A

A set of fibers that run from one pole to the other pole of the cell that are made of tubulin polymers and attach to the kinetochores

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21
Q

What is meiosis?

A

Two successive nuclear divisions after one round of DNA synthesis

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22
Q

What is prophase I?

A

Homologous chromosomes pair to form groups of four chromatids (1 pair from dad; 1 from mom) and recombination or crossing over occurs

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23
Q

What is metaphase I?

A

Tetrads move to center of cell

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24
Q

What is anaphase I?

A

Homologous chromosomes (NOT chromatids) pulled to opposite ends of cell (mom to one side; dad to other)

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25
Q

What is telophase I?

A

Chromosomes decondense, nuclear membrane forms, and cell divides into two daughter cells

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26
Q

What is prophase II?

A

Chromosomes condense and sister chromatids are visible

27
Q

What is metaphase II?

A

Sister chromatids move to center of cell

28
Q

What is anaphase II?

A

Sister chromatids pull to opposite ends of cell

29
Q

What is telophase II?

A

Separation of sister chromatids is complete, nuclear membrane forms and cell divides into two more daughter cells to end with a total of 4 haploid daughter cells.

30
Q

What is the synaptonemal complex?

A

Multi protein complex that forms between homologous chromosomes in meiosis (like a ladder)

31
Q

What does the SC do?

A

Holds paired homologous chromosomes together during prophase I of meiosis I and promotes genetic recombination (which is why it is not found during mitosis)

32
Q

Who is the homogametic sex and why?

A

Females because there’s only one possible gamete (X)

33
Q

Who is the heterogametic sex and why?

A

Males because there are two possibilities for gametes (X & Y)

34
Q

What is autosomal recessive?

A

Appears in equal proportions in male and female offspring of unaffected people and can disappear in offspring of an affected person

35
Q

What is autosomal dominant?

A

Affected male and female offspring occur in each generation and men and women pass trait to both sons and daughters; ONE defective allele can cause condition (i.e. heterozygous or homozygous dominant)

36
Q

What is x-linked recessive?

A

More males than females have phenotype (because 1 allele is sufficient to bring out the disease because they only have one X chromosome), none of the sons of an affected MALE have the phenotype (because the male only passes the Y chromosome), and none of the daughters of an affected male HAVE the phenotype but are carriers so 1/2 of the sones of the “carrier” female have the phenotype

37
Q

What is x-linked dominant?

A

Affected males pass their phenotype on to all their daughters, but none of their sons (because they pass Y to sons and X to daughters) and affected heterozygous females (2nd generation) pass their phenotype on to half of their sons and half of their daughters

38
Q

What is hemizygous?

A

1 allele is sufficient to bring out the disease because males only have 1 X chromosome (x-linked recessive conditions)

39
Q

What is Mendel’s 2nd Law?

A

During gamete formation the segregation of alleles for one gene is independent of the segregation of alleles for the other gene

40
Q

What is the product rule?

A

The probability of independent events occurring together is the product of the possibilities of the individual events (what are the chances of BOTH a AND b happening)

41
Q

What is the sum rule?

A

The probability of either of two exclusive events occurring is the sum of their individual probability (what are the chances of EITHER a OR b happening)

42
Q

What is the equation?

A

x^2 = sum(O-E)^2/E

43
Q

What is polygenic inheritance?

A

More than one gene influences a trait

44
Q

What is the comparison between when comparing 2 alleles and several more alleles?

A

The distribution of the trait approaches a normal distribution with additional genes and environmental effects

45
Q

What is cytoplasmic inheritance?

A

Inheritance through our second genome (the organelle genome)

46
Q

What is the mitochondrial genome?

A

Inherited ONLY via eggs and includes very few genes

47
Q

What is the chloroplast genome?

A

Inherited via eggs in plants

48
Q

What is the inheritance pattern of these genomes?

A

Affected females pass it on to ALL of their children, but only their daughters can pass it on

49
Q

What is crossing over?

A

When homologous chromosomes pair at meiosis, the chromosomes break and exchange parts

50
Q

What are chiasmata?

A

Visible manifestations of crossing over

51
Q

When does crossing over occur?

A

Between non-sister chromatids at the four-chromatid stage (prophase I) of meiosis I

52
Q

What is a testcross?

A

Heterozygous F1 (from pure breeding parents) with homozygous recessive

53
Q

How can one know if genes are linked?

A

They don’t get a 9:3:3:1 ratio with a dihybrid cross or they don’t get a 1:1:1:1 ratio with a testcross

54
Q

How can genes be quantified?

A

By their recombination frequency; sum of recombinants / total progeny * 100 to get a % which is equivalent to a map unit

55
Q

What is a three point test cross?

A

Cross a triple heterozygote with a triple recessive tester

56
Q

How do you determine map units for a three point test cross?

A

Take sum of one crossover and the double co and divide by number of progeny * 100 for both different crossovers and then for double crossover just take sum of all crossover numbers + 2(double co) / number of progeny * 100 to check that you did the 2 other crossovers correctly

57
Q

What are molecular markers?

A

Can be used to map chromosomes and to link genes to particular regions of chromosomes

58
Q

What are some molecular markers?

A

Single nucleotide polymorphisms, variable number tandem repeats, and restriction fragment length polymorphisms

59
Q

What can SNPs do?

A

Change in amino acid and therefore protein function or can alter gene expression

60
Q

What do RFLPs do?

A

Detect SNPs by recognizing them at restriction enzyme recognition sites and alerting via 2 RFLPs instead of 1 (one allele with the recognition site intact and one where the site is disrupted)

61
Q

What are VNTRs/STRs?

A

Stretches of DNA that are repeated; if the allele appears further down in PCR it means it is shorter and if there are 2 alleles it means it’s a heterozygote

62
Q

What is FISH?

A

Fluorescent In Situ Hybridization; If a gene has been cloned then it has a complementary DNA sequence that can be marked when the labeled probe only binds to the complementary sequence

63
Q

Mendel’s Second Law is due to…

A

Independent assortment of non-homologous chromosomes during meiosis

64
Q

If the chance of being a carrier of the recessive allele for cystic fibrosis is 1/90 for Asians and 1/25 for Caucasians, what is the probability of an Asian-Caucasian couple having child with cystic fibrosis?

A

(1/901/251/4 [probability of getting recessive alleles]} = 1/9000

Genetics (5 decks)

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