2.5 Flashcards

(32 cards)

0
Q

Cystic fibrosis occurs because people with CF have a faulty version of a protein called CFTR that transports

A

Chloride ions across cell membranes

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1
Q

Cystic fibrosis is an inherited disorder that affects

A

Plasma membranes

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2
Q

CFTR is coded for by a gene on

A

Chromosome 7

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3
Q

A gene is a

A

Length of DNA that occupies a specific position on a chromosome

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4
Q

A locus is a

A

Specific position on a chromosome

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5
Q

Each gene codes for a

A

Specific protein or polypeptide

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6
Q

A particular gene may have more than one form that is slightly different from the others in its sequence of nucleotide bases - these different forms of genes are called

A

Alleles

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7
Q

The allele that codes for cystic fibrosis has

A

3 nucleotides missing

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8
Q

The three missing nucleotides code for one amino acid, so this means that the faulty CFTR protein has one

A

Amino acid missing

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9
Q

(CF) this missing amino acid is very significant. Without it the CFTR protein folds up into a different tertiary structure, resulting in a protein that will

A

Not function

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10
Q

Human DNA is arranged in the form of

A

Chromosomes

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11
Q

Human body cell contains 23 pairs of chromosomes, making

A

46 in all

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12
Q

A gamete contains one set of 23 chromosomes. This means that every individual receives one set of chromosomes from

A

Their mother and one from their father

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13
Q

Every individual has two genes that code for CFTR, however, the two
Alleles may be the

A

Same or different

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14
Q

If an individual has 2 identical alleles of a gene, they are said to be:

A

Homozygous for that gene

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15
Q

If the alleles are different, they are said to be

16
Q

An allele is said to be dominant if it is always expressed in the

17
Q

Phenotype =

A

The characteristics of an organism resulting from its alleles

18
Q

The allele for the normal CFTR protein can be identified with the symbol:

19
Q

Allele for normal CFTR protein is

20
Q

The allele for the faulty version of CFTR is

21
Q

Faulty CFTR allele can be identified with symbols

22
Q

Faulty CFTR allele means that it is only expressed in the phenotype of an individual if

A

Two copies of the allele are present

23
Q

The genotype of an individual is their

A

Genetic make up

24
The genotype tells you the
Alleles they carry
25
A person with the genotype Ff is
Heterozygous for the cystic fibrosis gene
26
A person who is FF or ff is
Homozygous
27
Heterozygous = do not have CF because the normal allele is
Dominant
28
2 people who are heterozygous for the CFTR gene may have child with CF this is because a person who is heterozygous passes on only one of their alleles into each gamete. If the child inherits one faulty CFTR allele from each parent then they will develop
CF
29
Sometimes we say that heterozygous individuals who will not have CF but could pass on CF to their own children are
Carriers of cystic fibrosis
30
Monohybrid inheritance involves a cross between individuals in which only a
Single gene is being considered
31
Cystic fibrosis is an example of a
Monohybrid cross