Genetics Flashcards

1
Q

Where is genetic info stored?

A

cell nucleus

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2
Q

Where is DNA found?

A

in chromosomes within cell nucleus

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3
Q

What is DNA made up of?

A

base pairs: adenine, thymine, guanine, cytosine

Nucleotides

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4
Q

What is a genotype?

A

specific version of gene

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5
Q

What is a phenotype?

A

observable characteristics from genotype

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6
Q

What does diploid mean?

A

contain PAIR of chromosomes

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7
Q

How many chromosomes do we have?

A

22 pairs + 1 sex chromosome= 46 in total

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8
Q

What is the female chromosome?

A

46XX

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9
Q

What is the male chromosome?

A

46XY

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10
Q

What is a gamete?

A

sex cell

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11
Q

Each chromosome has a different look and is numbered according to size– true/false?

A

true

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12
Q

What is a chromosome made up of?

A

centromere (middle bit) short (p) and long (q) arms

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13
Q

What are the two types of cell division?

A

mitosis and meiosis

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14
Q

When does downsyndrome occur?

A

during meiosis cell division

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15
Q

How is downsyndrome caused?

A

uneven cell division- 1 gamete has too much info. Gamete then joins with normal gamete and have extra chromosome in chromosome 21.

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16
Q

Downsyndrome features include…

A

hypotonia (floppy), protruding tongue, cardiac abnormalities

17
Q

klinefelters syndrome is only in males- true/false?

A

true

18
Q

Features of klinefelters syndrome include…

A

hypogonadism (small genitals), infertility, tall stature

19
Q

turners syndrome is only in males- true/false?

A

false

20
Q

What is turner’s syndrome?

A

In girls, only 1 X no extra X or Y chromosome

21
Q

2 chromosomes come from 1 parent and none from the other in prada willi- true or false?

A

true

22
Q

What is imprinting?

A

genetic expression dependent on whether maternal or paternal genes in pair of chromosomes is switched on or off

23
Q

What happens in autosomal dominant conditions?

A

1 parent has abnormal gene (or both) 50 % chance getting it

24
Q

What happens in autosomal recessive conditions?

A

Both parents carriers- affected mother?= all children carriers

25
Q

What is X linked inheritance?

A

recessive affected males + carrier females= all daughters of affected dads= carrier- never from father-son

26
Q

What are the environmental influences affecting growth development?

A

physical, chemicals, radiation, drugs, infections

27
Q

How is downsyndrome diagnosed?

A

Mother blood test