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Human Genetics > Human genetics exam review > Flashcards

Human genetics exam review Flashcards

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Biology 101 flashcards
1
Q

Polyploidy

A

Cells and organisms containing more than two complete paired (homologous) sets of chromosomes

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2
Q

Mendels first law

A

Principle of segregation- each individual diploid organism possesses two alleles for any particular characteristic and only one is passed to offspring

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3
Q

Epigenetics

A

Alterations in DNA that do not include changes in base sequence, but alter the way in which the gene is expressed

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4
Q

How did mendel reveal the principle of independent assortment and what does it result from

A

Examining the behavior of two traits simultaneously using a dihybrid cross
Results from independent separation of chromosomes in anaphase I of meiosis

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5
Q

x linked recessive diseases

A 
Fragile x
Color blind
Hemophilia
Duchennes
Glucose-6-phosphate dehydrogenase deficiency
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6
Q

Penetrance can be affected by

A

Whether you inherited from mom or dad, whether you are a male or female

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7
Q

Heredity and heritability refer to

A

Populations, not individuals

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8
Q

Heredity

A

The passing on of physical or mental characteristics from one generation to the other

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9
Q

X-linked dominant traits

A 
Affected males pass on to all their daughters and none of their sons
Affected females (heterozygous) pass to about half of their daughters and sons
Doesn't skip generations
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10
Q

Genetic linkage

A

The tendency of alleles that are located close together on chromosome to be inherited together
Linked genes do not obey mendels second law (independent assortment)

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11
Q

First mechanism generating genetic variation in new gametes is

A

Crossing over during prophase I of meiosis

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12
Q

Dicentric chromosome produced how

A

Crossing over takes place in individual heterozygous for paracentric inversion

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13
Q

A double crossover between two linked genes produces

A

Only nonrecombinant gametes. Second crossover cancels effects of first

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14
Q

Translocation carriers and downs syndrome

A

Translocation carriers are at increased risk for producing children with downs syndrome

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15
Q

Deletion mapping can be used to

A

Determine the chromosomal location of a gene

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16
Q

GINA

A

Genetic information nondiscrimination act
Illegal to discriminate against employees or applicants because of genetic information.
Insurers cannot deny coverage to healthy person or charge them higher solely based on a genetic predisposition

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17
Q

Single crossover will result in

A

Half nonrecombinant gametes, half recombinant

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18
Q

Cohesin and shugoshin

A

Cohesin holds sister chromatids together. Shugoshin protects cohesion from degradation at the centromere. Shugoshin must be degraded before cohesin can be

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19
Q

Epigenetic modifications in germ cells

A

Epigenetic modifications are erased and parent specific modifications are established

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20
Q

Negative of crossing over

A

Can result in unequal exchange of genetic material producing chromosomes with deleted or duplicated regions

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21
Q

Why do 1/3 of women carrying hemophilia (x-linked recessive gene) experience bleeding episodes

A

Skewed x-inactivation- greater than 80% of X chromosomes showing preferential inactivation of one chromosome. Good chromosome may be inactivated

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22
Q

Model organism characteristics

A

Short generation time
Numerous progeny
Ability to carry out controlled genetic crosses
Ability to be reared in a lab environment
Availability of multiple genetic variants
Accumulated body of knowledge about their genetic systems

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23
Q

Genetics definition

A

The study of genes, heredity, and genetic variation in living organisms

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24
Q

Heterozygous vs homozygous inversions

A

Inversions in heterozygous often have non functional gametes due to large deletions
Homozygous have no problems

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25
Q

Complex inheritance of traits

A

Many genetic traits don’t follow simple inheritance patterns. Some are produced by the interplay of many sets of genes (polygenic traits)

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26
Q

Example of recessive epistasis

A

Bombay phenotype.
People with hh recessive mutation are bound to end up with blood type O
-Therefor, genotypes at both the H locus and ABO locus determine ABO blood type

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27
Q

Why are sex chromosome aneuploids more common than autosomal aneuploids

A

No mechanism of dosage compensation for autosomal chromatids. Autosomes carry more genes. Most autosomal aneuploids are spontaneously aborted

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28
Q

Aneuploidy

A

the loss or gain of chromosomes

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29
Q

How is incomplete dominance different from blended inheritance

A

If you cross F2, you can restore parental phenotype. This is not possible with blended inheritance

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30
Q

Allele definition

A

One of two or more alternative forms of a gene that arise through mutation and are found at the same place on the chromosome

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31
Q

Metacentric
Submeta
Telo
Acro

A

Meta-middle
Submeta- just off-center, one arm longer
Telo- no short arm visible
Acro-very short arm

32
Q

Lamarckianism

A

Inheritance of acquired characteristics

-Acquired traits become incorporated into hereditary info (i.e. giraffe necks)

33
Q

GWAS

A

Genome wide association studies

Can give hints on what variants might be important, but further testing must be done to confirm

34
Q

Proband

A

The person from who the pedigree is initiated

35
Q

Pleiotropy

A

When one gene influences two or more seemingly unrelated phenotypes
Cystic fibrosis, sickle cell

36
Q

Sex influenced traits

A

Controlled by genes on autosomes, hence such genes are present in both sexes but their expression is different in males vs females. (usually due to different responses to androgens or estrogens)

37
Q

Y linked traits

A

Appear only in males and are passed from a father to all sons

38
Q

Sex chromosome, gene and protein

A

Y chromosome
SRY gene
TDF- testis determining factor (protein)

39
Q

Heritability

A

The proportion of total variation between individuals in a given population that is due to genetic variation

40
Q

Heterogametic

A

Sex produces 2 different gamete types with two different sex chromosomes

41
Q

Other effects of deletions besides sterility

A

Imbalances in gene product
Recessive gene is expressed
Haploinsufficiency

42
Q

Molecular genetics

A

Studies the structure and function of genes at the molecular level

43
Q

After G1/S checkpoint

A

Cell is committed to cell cycle

44
Q

Heterosis

A

The improved or increased function of any biological quality in a hybrid offspring of pure bred strains (opposite of inbreeding depression)

45
Q

Mendels third law

A

Concept of dominance- when two different alleles are present in a genotype, only the trait encoded by one of them- the dominant allele- is observed in the phenotype

46
Q

Germ-plasm theory*

A

All cells contain a complete set of genetic information

Inheritance in multicellular organism takes place by means of germ cells

47
Q

Haplotype

A

Set of DNA variations that tend to be inherited together

48
Q

Genome definition

A

A complete set of genetic instructions for any organism

DNA or RNA

49
Q

Anticipation

A

A genetic trait becomes more strongly expressed or is expressed at an earlier stage as it is passed from generation to generation
i.e. huntingtons

50
Q

Concordance

A

The presence of the same trait in both members of a pair of twins. However, the trait may not be exactly the same phenotypically due to differences in penetrance or environment

51
Q

Recombination frequency equation

A

RF= (# recombinant progeny/Total # progeny) x100%

52
Q

Inversion/deletions/duplications can often lead to

A

Sterility

53
Q

Epistasis

A

When the effect of one gene is dependent on the presence of one or more “modifier” genes

54
Q

Mosaicism

A

Cells within same person have different genetic make-up. e.g. When different X chromosomes are inactivated in neighboring cells

55
Q

Genetic maps are determined by

A

Recombinant frequency

56
Q

Homologous chromosome definition

A

Similar but not identical. Each homolog carries the same genes but the alleles for each trait may differ

57
Q

Epigenetic trait*

A

A stably heritable phenotype resulting from changes in a chromosome without alterations in the DNA sequence

58
Q

Linkage disequilibrium

A

The non-random association of alleles at different loci. When the frequency of association of their different alleles is higher or lower than what would be expected if they were separating independently

59
Q

Interference

A

When the first crossover inhibits or impacts a second crossover

60
Q

Physical maps are determined by

A

Nucleotide position

61
Q

Complex disorders characteristics compared to single gene disorders

A

Multiple gene products instead of only one
Environment plays important role in phenotype
Often older age of onset
Disease risks for relatives are less predictable, but usually have lower risk
More common than single-gene disorders

62
Q

Mendels second law

A

Independent assortment- alleles segregate independently when gametes are formed

63
Q

Common rule

A

Requirements for assuring compliance by research institutions
Requirements for researchers obtaining and documenting informed consent
Requirements for IRB membership, function, operations
Additional protection for certain vulnerable research subjects (pregnant women, prisoners, children)

64
Q

Second mechanism generating genetic variation in new gametes is

A

Random distribution of chromosomes into newly divided cells during anaphase I

65
Q

Complete linkage leads to ___ – crossing over has what affect on this

A

All nonrecombinant gametes and progeny

Crossing over disrupts linkage and leads to recombinant gametes and progeny

66
Q

Hermaphrodite
Monoecious
Dioecious

A

Herm- both sexes in same organism
Mono- both reproductive systems in save organism
Dio- either male or female reproductive but not both

67
Q

Three point testcross can be used

A

To map three linked genes

68
Q

Pangenesis

A

Genetic info travels from different parts of body to reproductive organs
False

69
Q

Genomic imprinting

A

Different expression of genetic material depending on whether it is inherited from the male or female parent

70
Q

Primary spermatocyte/oocyte vs secondary

A 
Primary = 2n
Secondary = 1n
71
Q

G2/M checkpoint

A

Only passed if DNA is replicated/undamaged

72
Q

What causes the difference between genetic and physical maps

A

Recombination rates vary between different chromosomes

73
Q

Difference b/w spermatogenesis and oogenesis

A

Spermatogenesis generates 4 functional gametes while oogenesis generates 1

74
Q

Paracentric vs Pericentric inversion

A

Paracentric inversion- breakpoints are confined to one arm of the chromosome
Pericentric- breakpoints occur on both arms- span the centromere

75
Q

Prokaryotes

A

No nucleus
One circular DNA usually
No membrane-bound organelles

76
Q

Multiple testing correction

A

When testing for multiple different variables (bp, heart rate, etc..) we may need to increase the threshold to reach significance. i.e. the P value may need to be

Human Genetics (13 decks)

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