Globular Protein Flashcards
Recessive disorders:
the two copies of the gene must be affected
Dominant disorders :
affection of one copy of the gene
is enough to manifest the the disease.
Cystic Fibrosis (CF) is ?
a single gene disorder
What is the gene and chromosome of Cystic Fibrosis (CF) ?
(CFTR) gene on chromosome 7
Cystic Fibrosis (CF) it is a !
recessive disease
in the Cystic Fibrosis (CF) A normal product of this gene is ?
chloride channel
The most common mutation of Cystic Fibrosis (CF)
, called ?
delta F508 (ΔF508)
What is the function of delta F508 (ΔF508) ?
deletion of phenylalanine at position 508
Cystic Fibrosis CF involves the accumulation of ?
thick mucus in the lungs and pancreatic ducts
X-linked diseases they are ?
single gene disorders in which there is
defective genes on the X chromosome
males always pass their X chromosome to their ?
daughters
whereas females pass their X chromosomes ?
to both daughters and sons
men affected by X-linked diseases never pass the
disease to their ?
sons
Huntington’s disease is ?
rare inherited single gene disorder.
Huntington’s disease requires ?
full nursing care.
What is the chromosome of Huntington’s disease ?
Huntington’s disease
Huntington’s disease is an ?
autosomal dominant disease
Cystic Fibrosis (CF) is ?
recessive disease
Fragile-X syndrome It is an inherited form of mental retardation caused by a ?
single malfunctioning gene on the X-chromosome.
In the Fragile-X syndrome the Affected individuals usually have delayed development of
speech and language by ?
age 2
UCA is given a different third base U instead of A to become UCU which is still codes for serine ?
Silent mutation
changed base may code for a different amino acid.
Missense mutation
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 ?
Missense mutation
changed base may become a
termination codon ?
Nonsense mutation
