Trigger 9: questions Flashcards
Which variant change the number of base pairs in the genome?
- Indels
- CNVs
- Aneuploidies
Why are variants rare?
They are new OR very damaging
Why are common variants common?
They are old and not very damaging
SNVs within genes can result in
- Altered amino acids
- Truncated protein
- No effect (silent)
Older fathers are more likely to have children with…
Dominant single gene disorders
Older mothers are more likely to have children with…
trisomies e.g. down syndrome
What is a genotyping microarray used for?
- Genotyping specific variants in the genome
What is exome sequencing?
Sequencing all the exons of all the genes in the genome
Which of the following conditions is a DD?
- Cardiovascular disease
- Cancer
- Down syndrome
- Multiple sclerosis
- Schizophrenia
- Down syndrome
- Schizophrenia
What is the most common phenotype in DD?
intellectual disabilit
how do de novo SNVs usually cause disease
loss of function in dominant disease genes
What info can be used to determine if a variant is pathogenic or not?
comparing other patients with the same variant
- comparing other patients with variants in the same gene
- evaluating whether variant is present in normal controls
- evaluating in vitro functional date
- evaluating in vivo functional data
- testing toehr members of the family
The risk of recurrence of a de novo autosomal dominant disease in future pregnancies is..
- <1%
