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Human genetics exam review Flashcards

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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
Complex inheritance of traits
Many genetic traits don't follow simple inheritance patterns. Some are produced by the interplay of many sets of genes (polygenic traits)
26
Example of recessive epistasis
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
27
Why are sex chromosome aneuploids more common than autosomal aneuploids
No mechanism of dosage compensation for autosomal chromatids. Autosomes carry more genes. Most autosomal aneuploids are spontaneously aborted
28
Aneuploidy
the loss or gain of chromosomes
29
How is incomplete dominance different from blended inheritance
If you cross F2, you can restore parental phenotype. This is not possible with blended inheritance
30
Allele definition
One of two or more alternative forms of a gene that arise through mutation and are found at the same place on the chromosome
31
Metacentric Submeta Telo Acro
Meta-middle Submeta- just off-center, one arm longer Telo- no short arm visible Acro-very short arm
32
Lamarckianism
Inheritance of acquired characteristics | -Acquired traits become incorporated into hereditary info (i.e. giraffe necks)
33
GWAS
Genome wide association studies | Can give hints on what variants might be important, but further testing must be done to confirm
34
Proband
The person from who the pedigree is initiated
35
Pleiotropy
When one gene influences two or more seemingly unrelated phenotypes Cystic fibrosis, sickle cell
36
Sex influenced traits
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
Y linked traits
Appear only in males and are passed from a father to all sons
38
Sex chromosome, gene and protein
Y chromosome SRY gene TDF- testis determining factor (protein)
39
Heritability
The proportion of total variation between individuals in a given population that is due to genetic variation
40
Heterogametic
Sex produces 2 different gamete types with two different sex chromosomes
41
Other effects of deletions besides sterility
Imbalances in gene product Recessive gene is expressed Haploinsufficiency
42
Molecular genetics
Studies the structure and function of genes at the molecular level
43
After G1/S checkpoint
Cell is committed to cell cycle
44
Heterosis
The improved or increased function of any biological quality in a hybrid offspring of pure bred strains (opposite of inbreeding depression)
45
Mendels third law
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
Germ-plasm theory*
All cells contain a complete set of genetic information | Inheritance in multicellular organism takes place by means of germ cells
47
Haplotype
Set of DNA variations that tend to be inherited together
48
Genome definition
A complete set of genetic instructions for any organism | DNA or RNA
49
Anticipation
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
Concordance
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
Recombination frequency equation
RF= (# recombinant progeny/Total # progeny) x100%
52
Inversion/deletions/duplications can often lead to
Sterility
53
Epistasis
When the effect of one gene is dependent on the presence of one or more "modifier" genes
54
Mosaicism
Cells within same person have different genetic make-up. e.g. When different X chromosomes are inactivated in neighboring cells
55
Genetic maps are determined by
Recombinant frequency
56
Homologous chromosome definition
Similar but not identical. Each homolog carries the same genes but the alleles for each trait may differ
57
Epigenetic trait*
A stably heritable phenotype resulting from changes in a chromosome without alterations in the DNA sequence
58
Linkage disequilibrium
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
Interference
When the first crossover inhibits or impacts a second crossover
60
Physical maps are determined by
Nucleotide position
61
Complex disorders characteristics compared to single gene disorders
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
Mendels second law
Independent assortment- alleles segregate independently when gametes are formed
63
Common rule
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
Second mechanism generating genetic variation in new gametes is
Random distribution of chromosomes into newly divided cells during anaphase I
65
Complete linkage leads to ___ -- crossing over has what affect on this
All nonrecombinant gametes and progeny | Crossing over disrupts linkage and leads to recombinant gametes and progeny
66
Hermaphrodite Monoecious Dioecious
Herm- both sexes in same organism Mono- both reproductive systems in save organism Dio- either male or female reproductive but not both
67
Three point testcross can be used
To map three linked genes
68
Pangenesis
Genetic info travels from different parts of body to reproductive organs False
69
Genomic imprinting
Different expression of genetic material depending on whether it is inherited from the male or female parent
70
Primary spermatocyte/oocyte vs secondary
``` Primary = 2n Secondary = 1n ```
71
G2/M checkpoint
Only passed if DNA is replicated/undamaged
72
What causes the difference between genetic and physical maps
Recombination rates vary between different chromosomes
73
Difference b/w spermatogenesis and oogenesis
Spermatogenesis generates 4 functional gametes while oogenesis generates 1
74
Paracentric vs Pericentric inversion
Paracentric inversion- breakpoints are confined to one arm of the chromosome Pericentric- breakpoints occur on both arms- span the centromere
75
Prokaryotes
No nucleus One circular DNA usually No membrane-bound organelles
76
Multiple testing correction
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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