Genetics Flashcards
How many genes in the human genome?
21,000 to 25,000
How many pairs of chromosimes does a human have?
23 pairs
Which disease is the major burden of genetic disease-based pathology in Australia?
Cystic fibrosis
What proportion of new born children in Australia have PKU?
1/14,000
What passes through a functional cystic fibrosis transmembrane conduction regulator?
Chloride ions
What was the first disease to be routinely tested for at birth and treated as required?
Phenylketonuria (PKU)
Which protein is increased as a consequence of PKU?
Phenylpyruvate
PKU is a genetic disease of which protein?
Phenylalanine hydroxylase
What proportion of new born children in Australia have cystic fibrosis?
2,500
On which chromosome is the gene for cystic fibrosis transmembrane conduction regulator?
7
What is the most common fatal inherited childhood disorder?
Duchenne muscular dystrophy
What pattern of inheritance does Duchenne muscular dystrophy show?
X-linked reccessive
What pattern of inheritance does Becker muscular dystrophy show?
X-linked recessive
