Th2L03 Monogenic disorders

What are monogenic disorders

What are the characterstics of an autosomal recessive trait (6)

What explains why autosomal recessive disorders pervail

What are the characterstics of an autosomal dominant trait (5)

What is a lethal allele

What is genetic anticipation

In what commonly studied AD disease is genetic anticipation seen

What explains genetic anticipation

What are the characterstics of an X-linked recessive trait (4)

What is cystic fibrosis

What is the main characteristic of cystic fibrosis

What gene is implicated in cystic fibrosis

What is the CFTR on chromosome 7 gene code for

What is the Cystic fibrosis transmembrane conductance regulator gene responsible for: (3)

What allele is this: C (on chromosome 7)

What allele is this: c (on chromosome 7)

How many mutant alleles are implicated in cystic fibrosis

What are the charactertics and result of mutant CFTRΔ508 (4 steps)

What is the selective advantage of CF heterozygote

How old is the mutant CF gene

What is the lifespan of an individual with CF

Where is Sickle cell anaemia most common

What are the rates of sickle cell anaemia in malaria-endemic regions

What is the advantage of the Sickle cell heterozygote
(HbA/HbS)

What is Huntington's disease

What mutation is responsible for Huntington's disease

How many CAG repeats at the HD locus is normal

How many CAG repeats at the HD locus is pathogenic

What is the result of 36+ CAG repeats at the HD locus

What is the main characteristic of Myotonic dystrophy

What causes myotonic dystrophy

What is achondroplasia

When is achondroplasia dangerous

What causes achondroplasia

What haemophilia A

What is haemarthrosis

What is Factor VIII

What is the X-linked recessive probability (of an affected female) in Haemophilia A

What causes red-green colour blindness

How common in red green colour blindness in males

What is Duchenne muscular dystrophy

How common is Duchenne muscular dystrophy

What causes Duchenne muscular dystrophy

What is X-linked ichthyosis

How common is X-linked ichthyosis