Medicine Y1 (Theme 2 | Genetics) Flashcards on Th2L03 Monogenic disorders, created by Emma Allde on 22/08/2016.
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Created by Emma Allde
over 8 years ago
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Close
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Created by Emma Allde
over 8 years ago
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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
