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Clinical Cytogenetics and Molecular Genetics > Introduction > Flashcards

Introduction Flashcards

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Biology 101 flashcards
1
Q

_______ is the study of chromosome and genomic structure and function with a focus on the behavior of chromosomes during meiosis and mitosis

A

Cytogenetics

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2
Q

_______ aka ______ ______ mutations are inheritable

A

constitutional, germ line

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3
Q

________ mutations are acquired and not inheritable

A

somatic (acquired)

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4
Q

_______ ________ in 1882 is credited with the discovery of chromosomes

A

Walther Flemming (tumor cells in mitosis)

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5
Q

The 30 nm fiber describes a well-characterized condensed state of ________?

A

chromatin

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6
Q

____________(s) and ____________(s) are constitutive heterochromatin that is genetically inactive, repetitive DNA

A

Centromeres and telomeres

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7
Q

The ____ chromosome is facultative heterochromatin that is reversibly activated and
inactive

A

X

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8
Q

___________ cluster at periphery of nucleus during G1 and disperse in S

A

Centromeres

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9
Q

Gene _______chromosomes in center of nucleus while gene ______ chromosomes locate toward nuclear envelope

A

rich (center), poor (envelope)

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10
Q

___________ (s) interact with nuclear envelope to help anchor chromosomes

A

Telomeres

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11
Q

Heterochromatin is associated with tight _______ histone binding

A

H1

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12
Q

3 structures of metaphase chromosomes

A

metacentric, submetacentric, acrocentric

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12
Q

Light G-bands: contain more __________ (chromatin) and are ____-rich,DNA

A

euchromatin, GC-rich

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13
Q

Dark G-bands: contain more ___________ (chromatin) and ______-rich DNA

A

heterochromatin, AT-rich

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14
Q

Complex of proteins at the centromere to which the microtubules of the spindles attach

A

kinetochore

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15
Q

Telomere sequence

A

TTAGGG

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16
Q

Sister chromatids are joined together at the _______________

A

centromere

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16
Q

After each replication, the telomere shortens by ______ bp

A

100

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17
Q

Meiosis _______ generates diversity (thinking crossing over)

A

Meiosis I

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18
Q

At the end of meiosis ___________ sister chromatids separate

A

Meiosis II

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19
Q

Male meiosis begins at _____________

A

puberty

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20
Q

It takes ~ ______ days to mature a sperm cell, about ______ days are spent in meiosis

A

64 days, 21 ddays

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21
Q

About ______ rounds of mitosis of the primordial germ cells produce the
diploid oogonia in a follicle

A

20

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22
Q

In females Meiosis II occurs at _______, 10 to 50 years later

A

ovulation

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23
Q

By _____ month of fetal development oogonia have developed into primary
oocytes, suspended in Prophase I

A

3rd

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24
Q

Specialized egg phase where they are suspended in prophase I

A

dictyotene

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25
Q

Egg meiosis II requires ___________

A

sperm penetration

26
Q

_________________ is considered essential for proper chromosome segregation of homologues

A

recombination

27
Q

_____ to _____% of clinically recognized pregnancies are chromosomally abnormal

A

7-10%

27
Q

The X and Y chromosomes pair at _____ on the p arms and _______ on the q arms

A

PAR1, PAR2 (pseudoautosomal regions)

28
Q

Aneuploidy in human zygotes ______ to ______%

A

5-25%

29
Q

Nondisjunction in meiosis ______ results in heterodisomy and nullisomy

A

meiosis I

30
Q

Ploidy of humans with 69 and/or 92 chromosomes

A

polyploidy

30
Q

Nondisjunction in meiosis ______ results in isodisomy

A

meiosis II

30
Q

Ploidy of gamete cells

A

haploid

30
Q

Ploidy of humans with 69 chromosomes

A

triploid

30
Q

______ is the number of homologous chromosome sets present in a cell or
organism

A

ploidy

31
Q

Ploidy with incomplete sets of chromosomes

A

Aneuploidy (2n-1)

32
Q

_______ only:
Paraffin embedded samples
Touch preps of tissue
Cytospin slides

A

FISH

33
Q

Syndrome associated with deletion of 4p?

A

Wolf-Hirschhorn

33
Q

Wolf-Hirschhorn phenotype

A

microcephaly
micrognathia
short philtrum
prominent glabella
ocular hypertelorism
shield faces
dysplastic ears and periauricular tags
growth restriction
intellectual disability
muscle hypotonia
seizures
congenital heart defects

33
Q

FISH results on interphase cells can be reported in ______ to _____ hours

A

24 to 48

33
Q

SNP microarray can be used to detect copy neutral ________

A

LOH, loss of heterozygosity (uniparental disomy)

33
Q

Four things DNA microarrays cannot detect

A
  1. Balanced rearrangements
  2. specific mutations
  3. trinucleotide repeats
  4. low level mosaicism (10-15%)
33
Q

SNP microarray has a resolution of _____ KB

A

5

34
Q

Molar pregnancies with ______ contributions lack fetal development and have placental abnormalities

A

diandric (two sets of paternal chromosomes)

35
Q

69, XYY or 69, XXX moles are _________ moles

A

partial moles

36
Q

46, XX moles are ________ moles

A

complete (complete uniparental disomy)

37
Q

Completes moles (46, XX) from dispermy are associated with what malignancy?

A

choriocarcinoma

38
Q

FISH and ____________are both assessed on interphase chromosomes

A

CMA (chromosomal microarray)

39
Q

Year ______ Mendel published his laws of inheritance developed from pea breeding

A

1866

40
Q

In 1903 ______ and _______ posited chromosomes as carriers of genetic information (genes)

A

Boveri and Sutton

41
Q

1909: ______describes the first inborn error of metabolism - alcaptonuria (homogentisic oxidase deficiency)

A

Garrod

42
Q

_______: Beadle and Tatum develop the one-gene-one-enzyme (protein) theory

A

1941

43
Q

1944: DNA is transforming factor. _____ et al. studied pneumococcus
Showed that infectious characteristics can be transferred between organisms

A

Avery

44
Q

________: Sickle cell anemia is inherited

A

1948

45
Q

________: Watson and Crick describe the structure of DNA

A

1953

46
Q

Three technical improvements led to this discovery of 46 human chromosomes:
1. Use of ________ – stimulates T cells
2. __________ treatment causing the nucleus to swell and burst
3. Use of _________ to stall mitotic cells

A
  1. PHA - phytohemagglutinin
  2. hypotonic
  3. colchicine
47
Q

_________ discoverer of trisomy 21

A

Marthe Gautier/ Jerome Lejeune

48
Q

_______: Peter Nowell discovers “Philadelphia chromosome” responsible for chronic myeloid leukemia

A

1960

49
Q

1973:______ ________ discovers that the Ph+ chromosome is a translocation between chromosomes 9 and 22
She also identified translocation between chromosomes 8 and 21 in acute myelogenous leukemia, and between 15 and 17 in promyelocytic leukemia

A

Janet Rowley

50
Q

__________: “Rapid” sequencing methods by Sanger and Maxam & Gilbert

A

1977

51
Q

1976: Kan, Golbus and Dozy publish first application of a DNA probe in the prenatal diagnosis of a genetic disease ______ _______ ______

A

sickle cell anemia

52
Q

______: Kerry Mullis envisions PCR

A

1985

53
Q
A

Clinical Cytogenetics and Molecular Genetics (22 decks)

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