Lec 27 Flashcards

(45 cards)

1
Q

Thomas H Morgan( embryologist ) demonstrated that :

A

Certain genes present on sex chromosome ( X ) can regulate somatic characteristics { eye color }

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2
Q

What is X - linked inheritance?

A

Inheritance of somatic characteristics from parental X chromosome

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3
Q

What did Thomas Morgan use to demonstrate X-linked inheritance?

A

Fruit fly / drosophila melanegaster

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4
Q

Why did Morgan use fruit fly / drosophila ?

A

1- small in size
2- easy to raise in lab
3- life span ~30 days
4- both males & females have autosomes ( 3 pairs ) + sex chromosomes ( 1 pair )
5- chromosomes = 8

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5
Q

How did Dr Morgan discover that genes on X chromosome of drosophila regulate eyecolour?

A

He noticed that in the lab
most flies have ( red eyes , tan body , large wings ) —> wild type
some flies have ( white eyes , tan body , large wings ) —> mutant most were males

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6
Q

Why are most mutant flies males?

A

Based on different crosses he proposed that:
The gene/allele that regulates eye colour is not located on Y chromosome but on X

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7
Q

How can a drosophila female have white eyes?

A

She should carry white eye mutant alleles in both X chromosomes

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8
Q

For a male drosophila to have white eyes he should have

A

1 X chromosome carrying white eye mutant

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9
Q

What is the dominant eyecolour and the mutant eyecolour? 

A

Red
White

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10
Q

The affected father —— pass his white eyes to —- son

A

never

F1

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11
Q

What are double mutant flies?

A

Black body + short wings
Short wings + white eyes

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12
Q

What are single mutant flies?

A

Short wings
black body

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13
Q

Based on ——— Dr. Morgan proposed that genes regulating ( eye & body colours + wing size ) must be located on chromosome X close to each other.

A

Double mutant

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14
Q

Molecular event responsible for flies inheriting single or double mutants from X chromosome ? when does it happen?

A

crossover
In meiosis cell division during oogenisis

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15
Q

Dr Morgan proposed that the generation of single or mutant flies depends on ?

A

1- exchange of alleles during cross over
2- generation of novel X gametes
3- fertilisation by type of male gametes

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16
Q

Genes located closer to each other that can be inherited together

A

Linked genes / linkage

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17
Q

Dr. Morgan discovery was against one of medallion laws which is ?

A

Law of complete dominance

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18
Q

How did Dr Morgan identify the relative positions / distances between the three genes?

A

By identifying recombination frequencies between 2 genes by 3 crosses

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19
Q

What are the three crosses that Dr Morgan used to identify the relative position / distance between the three genes ?

A

1- male ( wild type ) X female ( white eyes + short wings ) TOTAL = 2302
Offspring: red eye normal wings [ 45.5% ] , red eye short wings [ 4.5% ] , white eye normal wings [ 4.5% ] , white eye short wings [ 45.5% ]
2- male ( wild type ) x female ( black body + short wings ) TOTAL = 2300
Offspring: black body short wings [ 41% ] , black body normal wings [ 8% ] , tan body short wings [ 9% ] , tan body normal wings [ 42% ]
3- male ( wild type ) x female ( white eyes + black body ) TOTAL = 1800
Offspring: white eye black body [ 46% ] , White eye tan body [ 4% ] , red eye black body [ 4% ] , red eye tan body [ 46% ]

20
Q

What is the equation of recombination frequencies?

A

RF = no.recombinants/total offspring x 100
No . Recombinants ( أقل نسبتين أجمعهم )

21
Q

Based on recombination frequencies Dr Morgan

A

1- identified the relative position of three genes on X
2- constructed a linkage map

22
Q

Doctor Morgan placed ——— recombination frequencies at extreme ends

A

Higher { wing size & body colour }

23
Q

He placed the gene controlling eyecolour in ——

24
Q

To honour the discovery of genes located on X chromosome that controls somatic characteristics and X-linked recessive inheritance ,Dr Morgan got ?

A

1- Nobel prize
2- the distance between genes is measured in CENTMORGAN

25
What are excellent disorders in humans?
1- X-linked recessive { haemophilia , color blindness , muscular dystrophy , fragelle X syndrome } Male x Female ( carrier ) Offspring: unaffected son , unaffected daughter , carrier daughter , affected son 2- X-linked dominant Male x Female ( affected ) Offspring: unaffected daughter , unaffected son , affected daughter , affected son
26
Colour blinded people can’t differentiate ———— colours under normal light
Red , green & blue
27
The human colour vision is based on the combination of ————, which are encoded by ——— genes
3 light sensitive pigments 3 different
28
The two genes encoding for —— & —— are located ——— each other on — chromosome
Red Green Next to X
29
Males are mostly affected with ———colour blindness
Red green
30
Male ( color blind ) x Female ( carrier ) Offspring:
Unaffected son , carrier daughter, affected son, affected daughter
31
What does muscular dystrophy / muscles atrophy cause?
Muscle weakness & degradation It results in decreased biceps
32
What causes muscular dystrophy?
Mutations in dystrophin , which is necessary for maintaining cell membrane cytoskeleton
33
Dystrophin is located on ?
X chromosome That why males are mostly affected
34
What is haemophilia?
Blood clotting disorder
35
How does blood clotting occur?
By combined actions of factor VIII & IX proteins
36
The genes encoding blood clotting factors { VIII & IX } are located on ?
X chromosome
37
Mutations in the gene encoding for factor —— results in haemophilia type A
VIII
38
Mutations in the gene encoding for factor —— results in haemophilia type B
IX
39
Fragile syndrome is caused by
CGG trinucleotide repeats present in FMR1gene
40
What is required for normal neural development?
FMR1 ( fragile X mental retardation 1 ) located on X chromosome
41
More copy number that the CGG repeats will —— the expression of the FMR1 transcript and it’s ———
Decrease Normal function
42
Where is the phosphate regulating neutral endopeptidase gene located ?
PHEX gene is on X chromosome
43
What is the importance of PHEX gene ?
Regulates the transport of phosphate & vitamin D in the kidneys
44
What results in hypophosphataemia and what are the results of having it ?
Mutations in PHEX gene Osteomalacia ( softening of bones )
45
Hypophosphataemia is inherited in
X- linked dominant pattern [ males & females are equally affected ]