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EoM 2 > Intro to Genetics > Flashcards

Intro to Genetics Flashcards

1
Q

the study of chromosome structure and identification of microscopically visible abnormalities. Examination of the ordered array of chromosomes or karyotype

A

Cytogenetics

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2
Q

the study of the structure and function of genes; includes gene mapping and recombinant DNA-based technologies

A

molecular genetics

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3
Q

how genetic defects disrupt normal metabolism/cell control mechanisms; this knowledge is necessary to design the rational treatment of disease

A

biochemical genetics

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4
Q

the study of how allele frequencies increase, decrease or stay the same in a population. allele frequencies are needed in some risk determinations

A

population genetics

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5
Q

diagnosis/detection of inherited disorders; treatment/management; risk assessment; genetic counseling; and pharmacogenetics

A

clinical genetics

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6
Q

What is Mendel’s Law of Segregation?

A

each individual possesses two genes for a particular characteristic

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7
Q

What is Mendel’s Law of Independent Assortment?

A

Genes can be transmitted independently of each other

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8
Q

Situation in which one gene masks the expression of another [Exception to Mendel’s Law of Independent Assortment]

A

epistasis

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9
Q

The greater association in inheritance of two or more nonallelic genes than is to be expected from independent assortment [Exception to Mendel’s Law of Independent Assortment]

A

linkage

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10
Q

the phenomenon whereby the degree to which a gene expresses itself depends upon the parent transmitting it [Exception to Mendel’s Law of Independent Assortment]

A

genomic imprinting

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11
Q

inheritance of a trait encoded in the mitochondrial genome [Exception to Mendel’s Law of Independent Assortment]

A

Mitochondria1 inheritance

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12
Q

when an individual is composed of two or more cell lines in their germ cell population, where these cell lines are of different genetic or chromosomal constitution [Exception to Mendel’s Law of Independent Assortment]

A

germline mosaicism

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13
Q

Genetic disorder stemming from polymorphisms in one gene

A

single-gene defects

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14
Q

Genetic disorder where the defect is due not to a single mistake in the genetic blueprint but to an excess or deficiency of the genes contained in whole chromosomes or chromosome segments

A

chromosome disorders

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15
Q

Inheritance by a combination of genetic factors and in some cases also non-genetic factors, each with only a relatively small effect

A

multifactorial disorders

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16
Q

Vertical transmission of a disease…

A

inherited

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17
Q

A gene or chromosome is involved in the susceptibility to or cause of the disease… (terminology used to describe this)

A

genetic

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18
Q

Indicates no evidence for vertical transmission or familial clustering (terminology)

A

sporadic

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19
Q

Condition present at birth

A

congenital

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20
Q

A trait or disorder which tends to cluster in families

A

familial

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21
Q

X-linked retardation that results in a chromosomal structural aberration. Facial abnormalities.

A

Fragile X syndrome

22
Q

Gene involved in Fragile X syndrome

A

FMR1 (fragile x mental retardation)

23
Q

non-staining gap, occasionally observed in characteristic sites on several chromosomes. exhibit gragility as show by the production of acentric fragments and chromosome deletions

A

fragile site

24
Q

Abnormal chromosome number

A

aneuploidy

25
Q

A chromosome with a centrally placed centromere

A

metacentric

26
Q

a chromosome that appears j-shaped at anaphase because the centromere is nearer one end than the other

A

submetacentric

27
Q

a chromosome with a nearly terminal centromere

A

acrocentric

28
Q

a chromosome with a terminal chromosome. Does not exist in humans

A

Telocentric chromosome

29
Q

Any fraction of DNA that differs sufficiently in its base composition from that of the majority of DNA fragments to separate as one or more bands distinct from the bands containing the majority of the DNA during isopycnic CsCL gradient centrifugation

A

Satellite DNA

30
Q

Repeat length of 7-100 bp; highly polymorphic

A

minisatellite DNA

31
Q

tandem single, di, tri, and tetranucleotide repeat base pair sequences throughout the genome.

A

Microsatellite DNA

32
Q

Diseases with Alu sequences involved in deletions

A

1) Familial hypercholsterolemia
2) Fabry disease
3) Tay-Sachs disease
4) ADA deficiency

33
Q

Diseases with insertions of Alu sequences

A

1) Neurofibromatosis

2) Hemophilia B

34
Q

Disease with insertions of Line-1 elements

A

Hemophilia A

35
Q

Which chromosome is the longest?

A

Chromosome 1

36
Q

Which chromosome is the shortest?

A

Chromsome 22

37
Q

What is PHA?

A

It’s a mitogen, added ti stimulate cell division for preparing chromosomes for karyotyping

38
Q

What are the two nuclear stains we learned about?

A

Giemsa (G) or Quinacrine (Q)

39
Q

“8q13” – what does 8 refer to?

A

Chromosome 8

40
Q

“8q13” – what does q refer to?

A

Long arm

41
Q

“8q13” – what does 1 refer to?

A

region 1

42
Q

“8q13” – what does 3 refer to?

A

band 3

43
Q

Pre-treat cells with trypsin to denature the protein, stain, and view chromosomes under normal light photo-microscopy

A

Giemsa (G) banding

44
Q

Fluorescent dye inds to A-T rich regions preferentially. Bands are viewed and photographed by fluorescent microscopy

A

Quinacrine (Q) banding

45
Q

What kind of banding is preferred when the chromosomes are relatively uncondensed in prophase or earlier?

A

High Resolution Banding

46
Q

AT-rich with few expressed genes. Rich in L1 repeated sequences (this is a band)

A

G-dark bands

47
Q

GC-rich with many expressed genes. Rich in Alu repeated sequences

A

G-light bands

48
Q

Labeled chromosome-specific DNA segment (probe) is hybridized with metaphase, prophase or interphase chromosomes and visualized under a fluorescent microscope.

A

Fluorescent in situ hybridization (FISH)

49
Q

Uses multiple fluorescent probes specific for sequences on each chromosome to generate a specific color for each chromosome along most of its length.

A

Spectral Karyotyping (SKY)

50
Q

DNA from test source is labeled with green fluorophore and control normal DNA is labeled with a red fluorophore. Both samples mixed and hybridized to nromal metaphase chromosomes. Alterations will affect the green to red ratio. Used in cancer.

A

Comparative Genomic Hybridization (CGH)

51
Q

Uses a massively parallel hybridization technology to test the abundance of sequences spaced throughout the genome.

A

DNA Microarrays

EoM 2 (12 decks)

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