Biochem 5 FA pp (Inheritance) Flashcards
Disease affects males, females, and all generations. Inheritance is?
Autosomal Dominant
Name the 12 most important autosomal dominant diseases
- Huntington’s
- Marfan’s
- ADPKD
- Familial hyperchol/FAP
- Hereditary Spherocytosis
- NF 1/2
- Tub Sclerosis
- MEN (1/2a/2b)
- Von-Hippel-Lindau
- Osler-Weber or HHT
Disease affects 25% of offspring and skips generations. Inheritance is?
Autosomal Recessive (enzymes)
What are 10 common autsomal recessive diseases?
- Albinism
- ARPKD
- Cystic Fibrosis
- Glycogen Storage
- Hemochromatosis
- Thalassemias
- PKU
- SCD
- Muchopolysaccharidoses
- Sphingolipidoses
Characteristics of X-linked recessive diseases?
Women have 50% chance of being a carrier, affected females are rare, disease not passed by males
Oblivious Female Will Give Her Boys Her x-Linked Disorders
- Ocular Albinism
- Fabry’s Disease
- Wiskott-Aldrich
- G6PD Deficiency
- Hunter Syndrome
- Bruton’s agamma
- Hemophilia
- Lesch-Nyhan
- Duchenne MskD
All female offspring of an affected father have disease. Inheritance is?
X-dominant
When age of onset or severity of disease is earlier or worse in successive generations?
Anticipation (Huntington’s)
If a disease skips generations but phenotypic expression has greater frequency than AD what is the phenomenon?
Incomplete Penetrance
What is pleiotropy?
When one gene produces effects on multiple body systems
What is locus heterogeneity?
When genes at multiple loci determine factors for the same trait
Important facts to remember about Prader-Willi
POP
- Paternal (P) gene is deleted
- Obesity, short stature, retardation, osteoporosis, hypogonadism and genital hypoplasia (Picture of Fat Child)
- Diagnose w/ FISH
Important facts to remember about Angelman Sydrome
MAMA
- Maternal gene is deleted
- Mood (inappropriate laughter)
- Ataxia
Hardy-Weinberg formula
p^2 + 2pq + q^2 = 1
