Genetics Flashcards
List Single Congential abnormalities
Disruption
Malformation
Deformation
Dysplasia
List Multiple kongenital abnormalities
Sequence
Syndrome
Association
Aneupleudy
Numerical Chromosome mutation: Trisomy Monosomy et.
Copy number variant
Different Structural abnormalities causing variable number of genes
Reasons for Down Syndrome
Trisomy due to nundisjunction in gametes
Robertson Translocation
Mosaicism (different numbers of chromosomes in different cells, late nondisjunction)
Mosaicism
Non-disjunction in early stage of zygote development –> plural genomes in one person
Dosage Compensation
Ensuring equal gene expression in both sexes (sex chromosomes) –> Mamals inhibition of one X chromosome in females
Heteroplasmy
differnet genome in different cells of one individuum
e.g. different mitochondria in one cell –> can influence severity of disease eg. only a few affected mitochondria in cell, a lot affected etc
Genetic heterogeneity
similar, same phenotyoe with different genetic cause
Same Gene, different mutations, different disease
Same disease, different genes
Same disease, different genes, different inheritance patterns
Genomic Imprinting
- Epigenetic modification which inhibits single alleles in human genome
inherited imprinting pattern from parents (determined in genome, which genes are imprinted)
- Each gamete formation imprinting starts again
Uniparental disomy
Two identical chromosomes from same parent Nondisjunction in Meiosis: Trisomy —> loss of one chromosome (unknown process) –> Uniparental disomy
angiogenesis
Angiogenese, Blut Gefäß wachstum
apoptosis
controlled cell death
polyclonal disease
genetic variety (not just clones) of cells in one tumor
Multilevel selection
Evolution, Selection can occur on different levels of cells, might give advantage for cell growth
Driver mutation
First occurring mutation in cancer
Proto-oncogene
Genes that function well but when mutation occurs might lead to cancer
Oncogenes
Genes that cause Cancer –> promote growth of cell
Malignancy
tendency of a medical condition to become progressively worse
Heterogeneity
Two different alleles coding for same protein
sporadic cancer
random cancer occuring
passenger mutation
an other mutation that occurs after first cancer mutation (driver mutation) has occured
cytogenetics
explore, how chromosome changes relate to cell division
chromosome banding
staining of chromosomes
(colour dependant on number if transcription)
Chromosome nomenclature
Down syndrome: clinical features
Clinical features:
Newborn - hypotonia (less muscle tension) , lethargy, excess nuchal skin
Craniofacial - macroglossia (big tongue), small ears, epicanthic folds (skin fold of upper eyelid covering inner eye), sloping palpebral fissures (schräge Öffnung der Augen), Brushfield spots
Limbs - single palmar crease(falten, die über die Hand gehen stark ausgeprägt), wide gap between first and second toes (“sandal gap”)
Cardiac - septal defects, atrioventricular canal
Other - short stature, duodenal atresia
