Genetic Variation Flashcards

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1
Q

Stages of meiosis 1

A

interphase, prophase 1, metapahse 1, and anashase 1

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2
Q

what happens in interphase

A

chromosomes duplicate

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3
Q

what happens in prophase 1

A

Homologous chromosomes pair and exchange segments

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4
Q

what happens in metaphase 1

A

tetrads line up

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5
Q

what happens in anaphase 1

A

pairs of homologous chromosomes split up

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6
Q

what is the Independent assortment of chromosomes

A

-The orientation of the chromosomes is random like a flip of coin: Heads or Tail
-Each gamete has 50:50 chance of having paternal or
maternal chromosomes or of having both
-Each gamete represents one of many possible
combination of maternal and paternal chromosomes

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7
Q

What is the number of possible combinations for the gametes

A

2^n= where n is the number of chromosomes in the genome

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8
Q

What is the independent assortment of chromosomes for humans

A

A human gamete contains 1 or 8 million possible assortments of the chromosomes inherited from the mother and father

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9
Q

What is random fertilization

A

the random chance of any one sperm and egg coming together is a product of these two probabilities
Egg->1/8million x 1/8 million

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10
Q

What are contributors to genetic variation

A

Each gamete has a unique genetic identity therefore the zygote will have a unique genetic identity therefore each human being is genetically unique (exemption- identical twins)

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11
Q

What are human Karyotypes

A

contain 22 pairs of autosomal chromosomes and one pair of sex chromosomes

The display of the chromosome paid off a cell arranged by size, shape and staining patterns

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12
Q

What is the methodology to obtain a karyotype

A

Obtain sample from the individual being studied

  • culture the cells in synchrony and when they are dividing vigorously, stop the cell division in metaphase by treatment with colchicine
  • chromosomes are stained with special staining
  • chromosomes are then examined with the microscope for their length, size shape and position of the centromere and pattern of staining
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13
Q

How do scientists identify the sec of a baby or abnormalities that indicate genetic diseases or tumor cells

A

Using combination of dyes, shapes and number

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14
Q

what is the condition Polyploidy

A

A chromosomal alteration in which the organism has more than two complete sets of chromosomes

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15
Q

What’s an aneuploidy

A

A chromosomal alteration in which certain chromosomes are present in extra copies or are deficient in number

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16
Q

What is Down syndrome

A

An aneuploid condition that results from three copies of chromosome 21
- trisomy 21

17
Q

How do aberrations form

A

Non- disjunction

18
Q

What is non - disjunction

A

An error in meiosis 1 in which members of a pair of homologous chromosomes fail to separate properly from each other or an error in meiosis 2 in which a pair of sister chromatids fail to separate properly from each other

19
Q

2n-1

A

Mono sonic turners syndrome

Short sterile, do not develop secondary sex characteristics normal intellectually

20
Q

Breakage if a chromosome can lead to how many types of changes in chromosome structure

A

Deletion- removed a chromosomal segment
Duplication- repeats a segment
Inversion- reverses a segment within a chromosome
Translocation- moves a segment from a non homologous chromosome to another