Globular Protein Flashcards

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1
Q

Recessive disorders:

A

the two copies of the gene must be affected

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2
Q

Dominant disorders :

A

affection of one copy of the gene

is enough to manifest the the disease.

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3
Q
Cystic Fibrosis (CF)
 is ?
A

a single gene disorder

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4
Q

What is the gene and chromosome of Cystic Fibrosis (CF) ?

A

(CFTR) gene on chromosome 7

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5
Q

Cystic Fibrosis (CF) it is a !

A

recessive disease

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6
Q

in the Cystic Fibrosis (CF) A normal product of this gene is ?

A

chloride channel

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7
Q

The most common mutation of Cystic Fibrosis (CF)

, called ?

A

delta F508 (ΔF508)

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8
Q

What is the function of delta F508 (ΔF508) ?

A

deletion of phenylalanine at position 508

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9
Q

Cystic Fibrosis CF involves the accumulation of ?

A

thick mucus in the lungs and pancreatic ducts

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10
Q

X-linked diseases they are ?

A

single gene disorders in which there is

defective genes on the X chromosome

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11
Q

males always pass their X chromosome to their ?

A

daughters

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12
Q

whereas females pass their X chromosomes ?

A

to both daughters and sons

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13
Q

men affected by X-linked diseases never pass the

disease to their ?

A

sons

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14
Q

Huntington’s disease is ?

A

rare inherited single gene disorder.

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15
Q

Huntington’s disease requires ?

A

full nursing care.

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16
Q

What is the chromosome of Huntington’s disease ?

A

Huntington’s disease

17
Q

Huntington’s disease is an ?

A

autosomal dominant disease

18
Q

Cystic Fibrosis (CF) is ?

A

recessive disease

19
Q

Fragile-X syndrome It is an inherited form of mental retardation caused by a ?

A

single malfunctioning gene on the X-chromosome.

20
Q

In the Fragile-X syndrome the Affected individuals usually have delayed development of
speech and language by ?

A

age 2

21
Q

UCA is given a different third base U instead of A to become UCU which is still codes for serine ?

A

Silent mutation

22
Q

changed base may code for a different amino acid.

A

Missense mutation

23
Q

serine codon UCA is given a different
first base—C—to become CCA, it will code for a
different amino acid, which is proline is ?

A

Missense mutation

24
Q

changed base may become a

termination codon ?

A

Nonsense mutation

25
Q

Physical appearance is called the ?

A

phenotype

26
Q

All daughters of an affected male and a normal female are ?

A

carriers

27
Q

All sons of an affected male and a normal female are ?

A

normal

28
Q

This type of inheritance of Mitochondrial also known as ?

A

maternal inheritance