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[MT 6315] Cytogen > Unit 2 Part 1: Mendelian Genetics > Flashcards

Unit 2 Part 1: Mendelian Genetics Flashcards

1
Q

Branch of biology that deals with heredity and variation of organisms.

A

Genetics

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2
Q

Carry the hereditary information (genes)

A

Chromosomes

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3
Q

Gene Expression Sequence

A

DNA → RNA → Proteins

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4
Q

Contain DNA that codes for the same genes

A

Homologous Chromosomes

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5
Q

Example of Homologous Chromosome

A

XY Chromosome

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6
Q

T/F: Sister chromatid may be identical but not necessarily same on the 23rd chromosome

A

T

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7
Q

a unit of heredity; a section of DNA sequence encoding a single protein

A

Gene

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8
Q

Composed of DNA and defines portion of a DNA

A

Gene

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9
Q

Combination of all genes

A

Genome

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10
Q

2 Type of Genomes

A
  1. Nuclear
  2. Mitochondrial
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11
Q

Two genes that occupy the same position on homologous chromosomes and that cover the same trait (like ‘flavors’ of a trait).

A

Alleles

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12
Q

A fixed location on a strand of DNA where a gene or one of its alleles is located.

A

Locus

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13
Q

T/F: Genome reflects the size and complexity of structure but not the intelligence

A

T

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14
Q

The genetic makeup of an organisms

A

Genotype

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15
Q

The physical appearance
of an organism (Genotype + environment)

A

Phenotype

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16
Q

Having identical genes (one from each parent) for a particular characteristic

A

Homozygous

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17
Q

Having two different genes for a particular characteristic

A

Heterozygous

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18
Q

T/F: Phenotype is controlled by genotype so genotype is representation of the genes

A

T

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19
Q

A trait in which a gene is carried on a sex chromosome (inherited from 23rd chromosome)

A

Sex-linked trait

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20
Q

Traits controlled by genes on one of 22 pairs of autosomes

A

Autosomal trait

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21
Q

The allele of a gene that masks or suppresses the expression of an alternate allele; the trait appears in the heterozygous condition

A

Dominant

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22
Q

An allele that is masked by a dominant allele; does not appear in the heterozygous condition, only in homozygous

A

Recessive

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23
Q

A genetic cross involving a single pair of genes (one trait); parents differ by a single trait

A

Monohybrid cross

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24
Q

a genetic cross between two different genes that differ in two observed traits

A

Dihybrid cross

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25
Q

Offspring from a genetic cross

A

F1 First filial generation

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26
Q

T/F: NonMendelian involves only single genes (single gene disorder)

A

F; Mendelian

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27
Q

Is the most common expression of a particular allele combination in a population. Allele may be recessive or dominant.

A

Wild Type Phenotype

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28
Q

A variant of a gene’s expression that arises when the gene undergoes a change, or mutation.

A

Mutant Phenotype

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29
Q

2 Types of Mutation

A
  1. Point Mutation - isa lang nagbago
  2. Frame Shift - nagbago reading sequence
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30
Q

more DNA sequence changes = more severe = _________

A

extensive shifts

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31
Q

T/F: All cells harbor the mutation, if the person has inherited it.

A

T

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32
Q

Consisting of sick children and their parents can reveal whether the child inherited two disease-causing mutations from carrier parents, or whether a dominant mutation arose anew, termed “_________.”

A

Tests of “trios” , de novo

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33
Q

Traits of two parents “blend” together and inherited by the offspring

A

Blending Theory of Inheritance

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34
Q

7 traits or characteristics of
pea plants:

A
  1. Shape of the peas
  2. Color of the peas
  3. Color of the flower
  4. Color of unripe pods
  5. Shape of ripe pods
  6. Axial or terminal flowers
  7. Size of stems
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35
Q

He debunked the blending theory of inheritance

A

Gregor Mendel

36
Q

He self-pollinated the first-generation offspring of pea plants.

A

Gregor Mendel

37
Q

Are ideal for probing heredity because they are easy to grow, develop quickly, and have many traits that take one of two easily distinguishable forms.

A

Peas

38
Q

Inheritance involves the passing of discrete units of
inheritance, or genes, from parents to offspring

A

Particulate Theory of Inheritance / Gene Idea

39
Q

Chromosome Theory of Inheritance was proposed by _____ and proved by ______ using _____

A

Walter Sutton, Thomas Morgan, fruit fly

40
Q

Genes are present within chromosomes inside the cell

A

Chromosome Theory of Inheritance

41
Q

Genes and chromosomes are in pairs in diploid cells

A

Chromosome Theory of Inheritance

42
Q

Patterns of Inheritance

One allele masked another; one allele was dominant over the other in the F1 generation.

A

Principle of Dominance

43
Q

Patterns of Inheritance

When gametes are formed, the pairs of hereditary
factors (genes) become separated through cellular
division wherein each gene does not affect the other
though undergoing processes, so that each sex cell
(egg/ sperm) receives only one kind of gene

A

Principle of Segregation

44
Q

Patterns of Inheritance

Genes located on different chromosomes will be
inherited independently of each other

A

Principle of Independent Assortment

45
Q

A useful tool to do genetic crosses

A

Punnett Square

46
Q

Used to determine the probability of outcome of offspring

A

Punnett Square

47
Q

Looks like a windowpane

A

Punnett Square

48
Q

Parent Genotypes: Aa and aa; Cross Aa x aa

What is the Resulting Genotype?

A

50% heterozygous Aa, 50% homozygous aa

49
Q

Pattern of Inheritance

Mendel noted that short plants crossed to other short plants were “true- breeding,” always producing the same phenotype, in this case short plants.

A

Principle of Dominance

49
Q

Pattern of Inheritance

Some dominantly inherited diseases are said to be due to a “gain-of-function,” because they result from the action of an abnormal protein that interferes with the function of the normal protein.

A

Principle of Dominance

50
Q

Pattern of Inheritance

Huntington Disease

A

Principle of Dominance

51
Q

T/F: Dominant disease whose symptoms do not appear until adulthood, or that do not severely disrupt health, remain in a population because they do not prevent a person from having children and passing on the mutation

A

T

52
Q

T/F: Most genes have more than two alleles and more than two variations of the associated trait.

A

T

53
Q

An individual with two different recessive alleles for the same gene

A

compound heterozygote

54
Q

Child has a recessive allele from each parent with the variant located at a different position within the same gene

A

CH Variant

55
Q

How is nucleotide inheritance determined?

A
  1. Laboratory-based: 10X Genomics / Fosmid Pool-Based Strategy
  2. Computer-based: SHA PEIT2, Beagle, Eagle 2, HapCUT2
56
Q

first genetic disorder for which mass post-natal genetic screening was available, beginning in the early 1960s, atypical cases were detected almost immediately

A

Phenylketonuria

57
Q

Is said to arise from a “loss-of-function” because the recessive allele usually prevents the production or activity of the normal protein

A

Recessive Trait

58
Q

Marriage between relatives introduces ________, which means “shared blood”—a figurative description, because genes are not passed in blood.

A

consanguinity

59
Q

Alleles inherited from shared ancestors are said to be

A

“identical by descent”

60
Q

Males and females affected with equal frequency

A

Autosomal Dominant & Recessive

61
Q

Successive generations affected until no one inherits the mutation

A

Autosomal Dominant

62
Q

Affected individual has an affected parent, unless he or she has a de novo mutation

A

Autosomal Dominant

63
Q

Affected individual has parents who are affected or are carriers (heterozygotes)

A

Autosomal Recessive

64
Q

Can skip generations

A

Autosomal Recessive

65
Q

Reflects the actions of chromosomes and the genes they carry during meiosis. Because a gene is a long sequence of DNA, it can vary in many ways.

A

Law of Segregation

66
Q

what Mendel called “non-true-breeding” or “hybrid”

A

Heterozygous

67
Q

States that for two genes on different chromosomes, the inheritance of one gene does not influence the chance of inheriting the other gene.

A

Law of Independent Assortment

68
Q

T/F: The two genes are said to “independently assort” because they are packaged into gametes at random.

A

T

69
Q

T/F: Two genes that are far apart on the same chromosome also appear to dependently assort, because so many crossovers take place between them that it is as if they are part of separate chromosomes

A

F; independently assort

70
Q

Principle 1 - Test cross/ Pedigree analysis

Law 1: ________
Law 2: ________

A
  1. Punett square - Single test cross/monohybdrid
  2. Dihybrid Cross
71
Q

A lethal genetic disease affecting Caucasians.

A

Cystic Fibrosis

72
Q

Caused by mutant recessive gene carried by 1 in 20 people of European descent

A

Cystic Fibrosis

73
Q

Affects transport
in tissues – mucus is accumulated in lungs, causing infections

A

Cystic Fibrosis

74
Q

If two parents carry the recessive gene of Cystic Fibrosis (c), that is, they are heterozygous (C, c), what is the probability of that their offspring will acquire cystic fibrosis

C C = normal
C c = carrier
c c = CF

A

50% Heterozygous Carrier
25% Homozygous Normal
25% Heterozygous CF

75
Q

A fatal genetic disorder that causes the progressive breakdown of nerve cells in the brain

A

Huntington Disease (HD)

76
Q

known as the quintessential family disease because every child of a parent with HD has a 50/50 chance of inheriting the faulty gene

A

Huntington Disease (HD)

77
Q

T/F: Allele for Huntington’s disease is dominant

A

T

78
Q

What is the probability of the offspring acquiring the Huntington disease if one of the parents is heterozygous of the disease while the other is normal?

H = HD allele
hh = normal
Hh = heterozygous HD

A

50% Heterozygous Carrier
50% Homozygous HD

79
Q

When you have an individual with an unknown genotype, you do a _________

A

Test Cross

80
Q

Mating that involve parents that differ in two genes (two independent traits)

A

Dihybrid cross

81
Q

Cross with a homozygous recessive individual

A

Test Cross

82
Q

If you get all 100% purple flowers, then the unknown parent was?

A

PP

82
Q

If you get 50% white, 50% purple flowers, then the unknown parent was

A

Pp

83
Q

What chromosome carries that trait most of the time?

A

X chromosome because Y chromosome is short

[MT 6315] Cytogen (9 decks)

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