Human Genome Flashcards

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1
Q

How many base pairs does a Human Genome have?

A

Over 3 billion

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2
Q

How many pairs of chromosomes does a human genome have?

A

23 pairs

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3
Q

How many homologous pairs does a genome have?

A

22 (sex chromosomes). Females contain 23

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4
Q

What is a karoytype?

A

A picture of all of the chromosomes arranged in order of decreasing size

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5
Q

How many genes are in an X chromosome?

A

Over 1400 genes

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6
Q

How many genes are in Y chromosome?

A

About 158 genes, but many repeat so theirs only 50 or so.

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7
Q

X chromosome

A

Essential for life does not influence sex; two equal female

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8
Q

Y chromosome

A

Not needed for life. SRY gene causes an embryo to be a male

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9
Q

Barr Body

A

Genes that are switched off in one of the X chromosomes. Males have only one X so no Barr body is formed.

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10
Q

Nondisjunction

A

When homologous chromosomes do not seperate as they should

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11
Q

Nondisjunction in meiosis I

A

Results in four abnormal cells

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12
Q

Nondisjunction in meosis ii

A

Two of the cells will be abnormal chromosomes

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13
Q

When a cell has an extra chromosome and is united with a normal gamete

A

Trisomy

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14
Q

When a cell is missing a chromosome and is united with a normal gamete

A

Monosomy

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15
Q

Down syndrome

A

Results in three copies of chromosome 21

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16
Q

Cat Eye syndrome

A

Three copies of 22

17
Q

Patau Syndrome

A

Three copies of 13

18
Q

Edward Syndrome

A

Extra chromosome in 18

19
Q

William syndrome

A

Monosomy in chromosome 7

20
Q

Cystic Fibrosis

A

Results in the deletion of just theee bases. Bases removed a single amino acid causes protein to fold improperly. One copy is no problem because the cystic fibrosis transmembrane conductance regulator (CFTR) allow it to work properly. 2 copies produce a disorder.

21
Q

Restriction enzyme

A

Enzyme that cuts DNA at a sequence of nucleotides

22
Q

Genomic printing

A

Process in which epigenetic chemical marks can be passed from one generation to the next in a sex-specific way.

23
Q

Gel electrophoresis

A

Procedure used to seperate and analyze DNA fragments by placing a mixture of DNA fragments at one end of a porous gel and applying an electric voltage to the gel.

24
Q

What do restriction enzymes make possible?

A

They make it possible for scientists to cut, seperate, and copy nucleus acids so scientists are able to read DNA base sequences.

25
Q

What are overhangs that can bond with the complementary base sequence?

A

Sticky ends

26
Q

How does reading DNA work?

A

Single-stranded FNA fragments are placed in a tube containing DNA polymerase and four nucleotide bases, A, T, G, and C.

The enzyme then uses the unknown strand as a template to make one new DNA strand after another.

They also add bases with chemical dye attatched. Each time one’s added to the new DNA strand, the synthesis of the strand stops.

The result is color coded DNA fragments of different lengths. Scientists then seperate the fragments.

27
Q

What is the shotgun sequencing method?

A

Chromosomes are cut into random fragments which are then sequenced automatically in a computer. Computers find overlapping sequences and determine the sequence for the entire dna.

28
Q

How many genes does a human cell have?

A

About 20,000

29
Q

What are single base differences between members of the same species?

A

Snips (single nucleotide polymorphism)