2.5 Flashcards

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

A

Heterozygous

16
Q

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

A

Phenotype

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:

A

F

19
Q

Allele for normal CFTR protein is

A

Dominant

20
Q

The allele for the faulty version of CFTR is

A

Recessive

21
Q

Faulty CFTR allele can be identified with symbols

A

f

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
Q

The genotype tells you the

A

Alleles they carry

25
Q

A person with the genotype Ff is

A

Heterozygous for the cystic fibrosis gene

26
Q

A person who is FF or ff is

A

Homozygous

27
Q

Heterozygous = do not have CF because the normal allele is

A

Dominant

28
Q

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

A

CF

29
Q

Sometimes we say that heterozygous individuals who will not have CF but could pass on CF to their own children are

A

Carriers of cystic fibrosis

30
Q

Monohybrid inheritance involves a cross between individuals in which only a

A

Single gene is being considered

31
Q

Cystic fibrosis is an example of a

A

Monohybrid cross