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MLSCI 480 - MOLECULAR > Prenatal Genetics > Flashcards

Prenatal Genetics Flashcards

1
Q

What is chromatin?

A
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2
Q

What are nucloeomes?

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3
Q

How many histones make up a nucleosome?

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4
Q

Which histones pair up?

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5
Q

Describe chromatin compaction

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6
Q

Compare and contrast heterochromatin and euchromatin

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7
Q

What are chromatosomes?

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8
Q

How are metaphase chromosomes prepared?

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9
Q

What is G band staining?

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10
Q

What are the types of FISH? (There are 5 we discussed)

A

1.Whole Chromosome FISH
2. Spectral karyotyping (SKY)
Locus specific FISH which includes
3. Copy Number Variation (CNV) FISH
4. Break-apart FISH
5. Fusion FISH

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11
Q

Name and describe the nucleosome histones

A

H2A - DIMER
H2B - DIMER
H3 - TETRAMER
H4 - TETRAMER

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12
Q

Differentiate nucleosome from chromatosome

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13
Q

What is the function of colcemid in metaphase chromosome prep?

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14
Q

What is the function of trypsin in metaphase chromosome prep?

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15
Q

What is the function of trypsin in Geimsa staining?

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16
Q

List and describe the 4 chromosome shapes

A

Metacentric – centromere located centrally, the p and q arms are approximately the same length.

Submetacentric - centromere is located off center; the q arm is slightly longer than the p arm

Acrocentric - the centromere is located nearer one end of the chromosome; the q arm is significantly larger than the p arm.

Telocentric – the centromere is the distal end of the chromosome and there is no p arm; not normally found in humans

17
Q

List the somatic aneuploidies studied

A

Trisomy 21 - Downs syndrome
Trisomy 18 - Edwardsyndrome
Trisomy 13 - Patau syndrome

18
Q

List the sex-linked aneuploidies studied

A

Monosomy X - Turner syndrome
XXY - Klinefelter syndrome
Trisomy X
XYY - Jacobs syndrome

19
Q

List the sex chromosome STRs and their associate gene locations

A

DXS1187 Xq26.2

DXS6803 Xq13

HPRT Xq26.2

TAF9L chromosome 3 (116 bp) and chromosome X (121 bp) female 1:1 ratio male 2:1 ratio

AMEL chromosome X and Y, encodes amelogenin female 1 peak 104 bp male 2 peaks 104, 110

SRY Yp11.31, a gene that encodes a transcription factor indicates presence of Y chromosome, male 248 bp

20
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A

MLSCI 480 - MOLECULAR (9 decks)

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