Week 3: Genetic tests and principles of inheritance Flashcards
What type of genomic test looks at the entire chromosome
Fluorescent in situ hybridisation (FISH)
What type of genomic test looks at a small bit of chromosome
Array comparative genome hybridisation (aCGH)
What type of genomic test looks at entire sets of chromosomes
Karyotyping
In an autosomal dominant disorder, what is the chance of a child of an affected parent inheriting the disorder
50%
In an autosomal recessive disorder, what is the chance of a child of 2 carrier parents inheriting the disorder
25%
In an autosomal recessive disorder, what is the chance of a phenotypically normal child with an affected siblings being a carrier
2/3 chance
In an X-linked disorder, what is the chance of a carrier female having an affected son
1/4 chance of son with dz
2/4 chance of carrier son
1/4 chance of normal son
In an X-linked disorder, what is the chance of a carrier female having an affected daughter
1/4 chance of being carrier
In an X-linked disorder, what is the chance of a son of an affected male being affected
Never
In an X-linked disorder, what is the chance of a daughter of an affected male being affected
100%