Zusammenfassung der Ressource
Dominant Traits
- Unaffected individuals will be homozygous recessive
- Epidermolysis
- A group of rare skin blistering conditions
- Complex
- Many different genes can be involved
- Various forms exist and each is caused by a different gene
- Some are mild; others are incapacitating
- Certain forms are due to problems with the protein keratin
- Show autosomal dominant inheritance
- Mutant alleles
- Abnormal keratin forms
large clumps in the cells
- Top layers of cells fall
apart; blistering
- Gene KRT5 encodes a keratin;
gene KRT14 encodes a keratin
- Epidermal cells are connected to each
other and to the basal lamina
- Junctional Epidermolysis
- One of the many protein "anchors" is defective
- Many forms
- Most show autosomal recessive inheritance