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G and H > Genomes and Chromosomes > Flashcards

Genomes and Chromosomes Flashcards

week 1

1
Q

What is a genome?

A

Total genetic content contained in a haploid set of chromosomes

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2
Q

What is a Transcriptome?

A

transcripts of DNA including alternatively spliced ones and structural RNA

result of transcription

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3
Q

Describe the bases found in Gene-dense vs Gene-poor human genomes.

A

Gene rich = Urban centers = rich in Guanine and cytosine

Gene poor = Deserts = rich in Adenine and Thymine

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4
Q

Approximately, how many DNA bases are exactly the same in ALL people?

A

99.9%

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5
Q

How much of the genome carries out a biochemical role?

A

Around 80%

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6
Q

How much of the Human Genome does Repetitive Sequences roughly make up?

A

50%

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7
Q

What are the five main types of genes/ sequences in the human genome?

A

Repetitive sequences, pseudogenes, simple sequence repeats, introns of other genes, Significant person-person structural variation.

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8
Q

What are Repetitive sequences?

A

Transposable elements, repeats and duplications

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9
Q

wWhat are the three regions of significant person-person structural variations.

A

Duplicated regions, Deleted regions and Rearranged regions

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10
Q

What percent of the total genome sequence does protein coding regions make up?

A

around 1%

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11
Q

What are the two parts that make up Transposons of rge Human Genome?

A

LINEs= Long interspersed elements

SINEs= short interspersed elements

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12
Q

What is Mitochondrial Eve?

A

Maternal ancestry – traced via mitochondrial DNA variation

Demonstrates all Europeans today descended from 7 women living in various parts of Europe 45,000 – 10 000 years ago.

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13
Q

What is Y Chromosome ‘ADAM’?

A

Paternal ancestry traced via the Y chromosome

Demonstrated: Minimal variation in sequence between populations

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14
Q

What did the human genome project expect to find? What instead was discovered?

A

Expected to find: correlation between number of protein coding genes and organism’s complexity

What was found: number of unique mRNA transcripts were relatively constant BUT number of NON-CODING RNAs dramatically INCREASE with developmental complexity.

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15
Q

Haplogroup

A

group of genetic markers that are inherited together and can be used to trace ancestary and migration.

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16
Q

What is the impact of Inherited Disease?

A

ALTERS or ELIMINATES normal gene, protein, cellular tissues and body function and affects genome and proteome

17
Q

What is the impact of Bacterial Infection and how?

A

Alters tissue function
- produced proteins that interfere with cellular functions
-alters gene expression
- can insert genes

affects both genome and proteome

18
Q

What is the impact of a Viral Infection?

A

Forces host genome to make viral proteins
-some interfere with normal cell functions
-some lead to production of more virus

19
Q

What is the only phase in which Chromosomes appear?

A

M phase (mitosis)

20
Q

What are Sex Chromosome Aneuplodies and two examples?

A

carriage of an atypical number of X and/or Y-chromosomes beyond the typical female (XX) or male (XY) complement.

Turners

XXY (Klinefelter)

21
Q

What is non-invasive prenatal testing and what can it test for?

A

takes a blood sample from mother that contains cell-free fetal DNA

Tests for:
sex
Sex Chromosome Aneuploidies (SCA): Monosomy X (Turner) and XXY (Klinefelter syndrome)
Genetic disorders: Trisomy 21, 18 or 13
22q11.2 microdeletion

22
Q

what are four prefixes associated with chromosome terminology?

A

Acro – tip

Sub – imperfect/below

Meta – mid

Telo - at the end/ final

23
Q

What is the order of naming a chromsome? (e.g Xp11.2)

A

Chromosome (x), Arm (p), Region (1), Band (1) and sub-band (.2)

24
Q

What is a Telomere?

A

region of short repetitive DNA sequences at END of chromsome.

25
Q

What are the two types of chromatin? What are their characteristics?

A

Euchromatin
-more relaxed
-active genes
-replicates in early S-phase
-lightly stained when undergoes G-banding

Heterochromatin
-more condensed
- silent genes
- replicates late S-phase
- darkly stained when undergoes G-banding

26
Q

What are the two sub-types of heterochromatin and their characteristics?

A

Constitutive - condensed in all cell types

Facultative - condensed in some cell types

G and H (9 decks)

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