Lecture 1 Flashcards

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1
Q

what is human genetics

A

the study of human variation

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2
Q

medical genetics

A

the study of genetic disease in humans

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3
Q

clinical genetics

A

a medical specialty which deals with families affected by or at risk of genetic disease

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4
Q

what are the two major foundations of modern genetics

A
  • Darwins theory of evolution
  • Mendel’s laws of heredity
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5
Q

Mendel’s Laws

A
  1. law of uniformity
  2. law of segregation
  3. law of independent assortment
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6
Q

homozygote

A

an organism that carries two identical alleles for a particular gene

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7
Q

explain the law of uniformity

A

when 2 homozygotes for different alleles are crossed, all of the F1 offspring are identical and heterozygous

during the formation of gametes, the two alleles (variants of a gene) for each trait separate
from each other so that each gamete receives only one allele for each trait. As a result, offspring inherit one allele from each parent.

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8
Q

explain the law of segregation

A

each individual possesses 2 genes for each characteristic only one of which can be transmitted at any one time

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9
Q

explain the law of independent assortment

A

members of different gene pairs segregate to offspring independently of one another

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10
Q

eugenics

A

the improvement of a population genetic constitution by selective breeding

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11
Q

how are genes carried

A

genes are carried by chromosomes which are present in the nucleus of every cell

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12
Q

mitosis

A

form of replication in all non-gonadal cells.
cell replicates to form two identical copy cells, each with the same number of diploid number of chromosomes

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13
Q

meiosis

A

form of cell division which produces gametes
in humans this form of division produces 23 chromosomes gametes from 46 chromosomes parent cells

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14
Q

what are the stages of mitosis

A

interphase: DNA replication

prophase: chromosomes condense

metaphase: chromosomes align in center and attach to spindle

anaphase: move along spindles to opposite poles

telophase: the divides into two daughter cells

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15
Q

at what stage is best for looking at the chromosomes

A

metaphase

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16
Q

what are the two cell divisions that meiosis involves

A

meiosis 1 - the reduction division

meiosis 2 - a simple mitotic reduction, with the same stages as mitosis

17
Q

what is the formation of ova called

A

oogenesis

18
Q

what is the formation of sperm called

A

spermatogenesis

19
Q

when does oogenesis occur

A

prior to birth in the developing foetal ovaries

20
Q

dictyotene stage

A

the prophase kind of stops
they remain in this phase until ovulation occurs up to 50 years later

21
Q

when is meiosis II complete

A

after fertilisation in the Fallopian tube, when the secondary oocyte divides into an ovum and a polar body