Genetics Flashcards
What is the role of a dentist in genetic testing?
- Refer to clinical genetics and request tests
What does confirming a genetic diagnosis allow the dentist to give the patient?
- Can co-ordinate management
- Can give them information about the suspected condition
- Can give the patient options (treatment, etc)
- Can allow the patient to identify if there may be any risk to self or family members
How many pairs of autosomes are there in the human genome?
22 pairs
What is a chromosome?
A double-stranded DNA, coated with proteins
What does this pedigree symbol mean?:
White square with black border
Male
What does this pedigree symbol mean?:
White square with black border with diagonal line through it
Male who has died
What does this pedigree symbol mean?:
White circle with black border
Female
What does this pedigree symbol mean?:
Black square or circle
Affected male or female
What does this pedigree symbol mean?:
Half filled in square or circle
Carrier of disease
What does this pedigree symbol mean?:
Arrow pointing to square or circle
Proband - Person in the family that brings family to attention - where you notice something is wrong
What does this pedigree symbol mean?:
Square and circle with ===== (double line) connecting them
Consanguineous marriage - people who are in a partnership and are genetically related
What does this pedigree symbol mean?:
Square and circle with line connecting them that is scored out
Divorced couple
What does this pedigree symbol mean?:
White diamond
Pregnancy
What does this pedigree symbol mean?:
Black (filled in) diamond
Miscarriage
What are examples of SIMPLE genetic diseases?
Single gene mutations: - Autosomal dominant - Autosomal recessive - X-linked recessive (X-linked dominant) (Y-linked)