2.5 Flashcards
Cystic fibrosis occurs because people with CF have a faulty version of a protein called CFTR that transports
Chloride ions across cell membranes
Cystic fibrosis is an inherited disorder that affects
Plasma membranes
CFTR is coded for by a gene on
Chromosome 7
A gene is a
Length of DNA that occupies a specific position on a chromosome
A locus is a
Specific position on a chromosome
Each gene codes for a
Specific protein or polypeptide
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
Alleles
The allele that codes for cystic fibrosis has
3 nucleotides missing
The three missing nucleotides code for one amino acid, so this means that the faulty CFTR protein has one
Amino acid missing
(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
Not function
Human DNA is arranged in the form of
Chromosomes
Human body cell contains 23 pairs of chromosomes, making
46 in all
A gamete contains one set of 23 chromosomes. This means that every individual receives one set of chromosomes from
Their mother and one from their father
Every individual has two genes that code for CFTR, however, the two
Alleles may be the
Same or different
If an individual has 2 identical alleles of a gene, they are said to be:
Homozygous for that gene