Autosomal Pedigress Flashcards
1
Q
Square Symbol
A
male
2
Q
circle symbol
A
female
3
Q
Consanguinous
A
- mating between relatives
4
Q
Roman numeral symbols
A
family generations
5
Q
Number symbols
A
children birth order within generation
6
Q
Unfilled chart shapes
A
- unaffected individual
7
Q
Filled chart shapes
A
-affected individual
8
Q
half filled chart shapes
A
- known heterozygotes
9
Q
Name 5 autosomal recessive genetic disorders
A
- cystic fibrosis
- Phenylketonuria
- Sickle cell anemia
- Xeroderma pigmentosum
-Tay-Sachs disease
10
Q
Cystic Fibrosis
A
- autosomal recessive
- mucus production that blocks ducks of certain glands and lung passages
11
Q
Phenylketonuria
A
- autosomal recessive
- excess accumulation of phenylalanine in blood, mental retardation
12
Q
Sickle Cell anemia
A
- autosomal recessive
- abnormal hemoglobin, blood vessel blockage
13
Q
Xeroderma pigmentosum
A
- autosomal recessive
- lack of DNA repair enzymes, sensitivity to light, skin cancer
14
Q
Tay-Sachs disease
A
- autosomal recessive
- improper metabolism in nerve cells, death in childhood
15
Q
Autosomal Recessive
A
- unaffected parents can have affected children(2 normal alleles or 1LOF + 1 normal allele)
- all children of affected parents are affected (2LOF alleles)
- Both parents Aa, risk of affected child 25%
- equal affected males and females
- BOTH PARENTS MUST TRANSMIT THE GENE FOR A CHILD TO BE AFFECTED (aa)
- needed to inherit one LOF allele from each parent, each parent must at least be a carrier
