Chromosomal Basis of Inheritance Flashcards

1
Q

Explain study by Thomas Hunt Morgan that involves Drosophila melanogaster (fruit fly)

A

He found a male with a white eyes, mated it with a female with red eyes, F1 generation all had red eyes, F2 generation showed 3 red: 1 white (males had white)
Fly’s eye color linked to biological sex
Male flies get X chromosome from their mother who is heterozygous for red eye leading to fifty-fifty split of phenotypes

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2
Q

Wild-type

A

Most common character phenotype

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3
Q

Mutant

A

Less common character phenotype

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4
Q

Recombinant phenotype

A

Occurs when crossing over occurs
If offspring possess a non-parental phenotype

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5
Q

Linked genes

A

Do not assort independently of each other
Travel together during meiosis and fertilization

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6
Q

Unlinked genes

A

Assort independently of each other
Not near each other on the same chromosome or found on separate chromosomes (crossing over occurs at prophase l between homologous chromosomes, more likely when genes are far apart)

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7
Q

Incomplete linkage

A

Give rise to recombinants
Genes present on a chromosome more likely to cross over

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8
Q

Why are males more likely to inherit sex-linked disorders compared to females

A

Males only have one X chromosome, so if they receive the recessive trait from the mother they would have the sex-linked disorder
Females can be heterozygous so they are carriers

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9
Q

Examples of human sex-linked disorders

A

Duchenne muscular dystrophy - due to absence of X-linked gene for muscle protein, dystrophin (individuals rarely live past early 20’s)
Hemophilia - absence of one or more clotting factors (bleeding in muscles and joints)
Hypertrichosis - can be present at birth or acquired later in life (excessive or animal-like hair on face and body)

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10
Q

Non-disjunction

A

Pairs of homologous chromosomes do not separate normally during meiosis 1 or 2
Gametes contain 2 copies or no copies

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11
Q

Aneuploidy

A

Occurrence of extra or missing chromosome due to non-disjunction, which leads to an unbalanced chromosome complement

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12
Q

Monosomy

A

XO or X- (Turner’s syndrome)

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13
Q

Trisomy

A

Down syndrome - 3 copies of chromosome 21
XXX - trisomy X
XYY - Jacob’s syndrome
XXY - Klinefelter’s

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14
Q

Examples of human aneuploid conditions

A

Down syndrome - due to 3 copies of chromosome 21
Klinefelter’s syndrome - XXY (male sex organs, female characteristics, sterile, normal intelligence)
Monosomy X or Turner’s syndrome - XO or X- (short stature, sterile, normal intelligence)
Trisomy X - (XXX) healthy females with symptoms of developmental delay
Jacob’s syndrome - (XYY) taller than average, below normal intelligence, still able to have children

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15
Q

Cri du chat

A

Human syndrome based on structural alteration in one of the chromosomes (specific deletion in chromosome 5)
Not an aneuploid condition
Distinct facial features, severe cognitive speech, high pitch cry like distressed cat

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