Topic 25 - Genetic Disorders Flashcards
1
Q
Learning Objectives
A
- Distinguish between autosomal dominant, autosomal recessive, X-linked recessive, X-linked dominant and Y-linked modes of inheritance.
- Predict the probability of an offspring’s genotype and phenotype for autosomal and sex-linked traits and disorders
- Determine the phenotype and genotype of individuals in a pedigree for autosomal and sex-linked traits and disorders
- Describe the role of sex chromosomes in human sex determination
- Explain how X chromosome inactivation can lead to haemophilia manifestation in female carriers
2
Q
Sickle cell disease [heft]
A
[heft]
3
Q
Huntingtons disease [heft]
A
[heft]
4
Q
Pedigree questions [heft]
A
[heft]
5
Q
Sex determination
A
Determined by X and Y chromosomes
- SRY gene on Y chromosome is responsible for inheritance of male sex determination
6
Q
Sex linked disorders
A
[heft]
X linked dominant vs recessive
Y linked
7
Q
Red-Green colour blindness
A
- X-Linked recessive disorder
- Abnormal opsin pigment in cone cells of retina
8
Q
Sex linked questions [heft]
A
[heft]
