Clinical Application of Genetics Flashcards
1
Q
Genetics by the Numbers
A
- Every time you have a child they will incur 100 to 200 NEW mutations
- Mutation rate increases with age of the father
2
Q
What is Genetics?
A
-
Genes code for proteins
- Changes in chromosome structure and DNA sequence affect disease risk
- Inheritance of single genetic variants (mutations)
- Classic Mendelian patterns of inheritance (recessive, dominant, X-linked)
- Single-gene disorders
3
Q
What Can Genes Tell You?
A
- Diseases likely to develop
- Reaction to medication
- Response to infectious disease
- How you will behave
- How you sleep
- What you eat
4
Q
Genetics Evaluation
A
- Prenatal history
- Birth History
- Family History
- Physical Exam
Synthesis:
- syndromic/diagnostic considerations
- Testing recommendations
- Management
- Recurrence risk
NOTE: Often long, very thorough visits w/ genetic counselors
5
Q
Family History
A
- At least a 3 generation pedigree
- be complete but concise
- Include 1/2 siblings
- Be culturally sensitive
6
Q
Single Gene vs. Multi-gene factors to disease
A
Single gene mutation
- marfan syndrome
- cystic fibrosis
- huntington disease
Multi-gene (complex)
- heart disease
- diabetes
- cancer
- obesity
7
Q
Types of Genetic Tests
A
- Karyotype (Chromosome Analysis) & FISH –> down syndrome detection
- CMA (CGH and SNP array) –> looking for chunks of missing chromosomes
- Single Gene Testing
- Deletion/Duplication Testing
- Methylation Testing
- Whole Exome Sequencing
- Whole Genome Testing
8
Q
Analogy for Karyotype
A
Bookshelf = Karyotype
Book = Chromosome
Chapter/Page = Large deletion/duplication including many genes
Paragraph = Small deletion/duplication or all/parts one gene
Sentence = Gene
Word = Basepair
Common misspellings (their/there, effect/affect) = SNP
9
Q
Disease and Testing
A
down syndrome = karatying
autism/ CMA/marfan syndrome = single gene
polydactyly = mircroarray
breast cancer = gene panel
autism (- chromosome microarray) = exome
