Use LEFT and RIGHT arrow keys to navigate between flashcards;
Use UP and DOWN arrow keys to flip the card;
H to show hint;
A reads text to speech;
23 Cards in this Set
- Front
- Back
|
Autosomal dominant |
Achondroplasia Inherited breast and ovarian cancer Familial hypercholesterolemia Marfan Syndrom Neurofibromatosis |
|
|
Autosomal dominant Things |
Incomplete penetrance Variable expressivity De novo mutation Pleiotropy Late onset Lethal genotype |
|
|
Autosomal recessive Things |
Genetic heterogenity Consanguinity Pseudodominance Uniparental disomy |
|
|
Autosomal recessive |
Haemochromatosis (most common) Cystic fibrosis Phenylketonuria |
|
|
X-linked recessive Things |
X-inactivation De novo Carrier expression |
|
|
X-linked recessive |
Daltonism Duchenne muscular dystrophy Haemophilia A and B Leri-Weill syndrome |
|
|
X-linked dominant Things |
Lethality in males De novo X inactivation |
|
|
X-linked dominant |
Rett syndrome |
|
|
Holandric |
Azoospermia (lack in ejaculate) & Oligozoospermia (reduced) |
|
|
Achondroplasia |
AD
FGFR3 (Fibroblast Growth Factor Receptor 3)
Protein overly active -> disturbance in bone growth of long bones) Dwarfism, ossification problem
80% De novo Homozygous mostly lethal |
|
|
Rett syndrome |
X-D MECP2 (methyl-CpG-binding protein 2 gene) De novo in fathers gametogenesis (99%) or mum carrier with X inactivation Only females, male lethal Neurodevelopmental disorder Variable expressivity |
|
|
Familial hypercholesterolemia |
LDLR APOB PCSK9 LDLRAP1 Loss of function in LDLR -> raised serum level LDL -> excess deposition of cholesterol -> artherosclerosis and coronary heart disease Genetic heterogenity |
|
|
Marfan syndrome |
AD 25% De novo FBN1 (fibrillin1) CT disorder with ocular, skeletal and cardiovascular symptoms Overgrowth and instability of tissues Variable expressivity Pleiotropy |
|
|
Hereditary hemochromatosis |
AR/(AD) HAMP HFE HFE2 SLC40A1 TFR2 Accumulation of iron -> cirrhosis, hepatomas, diabetes, cardiomyopathy, arthritis, hypogonadism Allelic heterogenity 1/15 heterozygote |
|
|
Cystic fibrosis |
AR CFTR Abnormal Cl and Na transport, blockage of exocrine outflow Triad: COPD + exocrine pancreatic insufficiency + elevation of Na+ and Cl- concentration in sweat Infertility Allelic heterogenity |
|
|
Phenylketonuria |
AR PAH (phenylalanine hydroxylase) Error of metabolism -> neurotoxic effect of hyperphenylalaninemia (mental retardation, mousy odor, light pigmentation, eczema, epilepsy...) Allelic heterogenity Maternal PKU |
|
|
Azoospermia, Oligospermia |
No inheritance (holandric) AZFA AZFB AZFC USP9Y in AZFA Azoospermia: no sperm in samen Oligospermia: reduced level of sperm Deletions |
|
|
Léri Weill Syndrome |
PsAD SHOX SHOXY In pseudoautosomal region Skeletal dysplasia, Madeßung wrist deformity, short stature More severe in females |
|
|
Daltonism |
X-R Several genes :D Very common, more males |
|
|
Dushenne muscular dystrophy |
X-R DMD 1/3 de novo DMD gene instructions for protein dystrophin in muscles Deletions Boys getting problems walking, getting up, wheelchair with specialized care, heart failure |
|
|
Haemophilia A and B |
X-R A on F8 B on F9 Bleeding disorder, blood clotting protein (coagulation factor 8/9) not functioning |
|
|
Inherited breast and ovarian cancer |
AD BRAC1 BRAC2 Multifactorial Incomplete penetrance |
|
|
Cowden syndrome |
AD or de novo Increased cancer risk, macrocephaly |
