Genetics

Question 1

List Single Congential abnormalities

Answer 1

Disruption

Malformation

Deformation

Dysplasia

Question 2

List Multiple kongenital abnormalities

Answer 2

Sequence

Syndrome

Association

Question 3

Aneupleudy

Answer 3

Numerical Chromosome mutation: Trisomy Monosomy et.

Question 4

Copy number variant

Answer 4

Different Structural abnormalities causing variable number of genes

Question 5

Reasons for Down Syndrome

Answer 5

Trisomy due to nundisjunction in gametes

Robertson Translocation

Mosaicism (different numbers of chromosomes in different cells, late nondisjunction)

Question 6

Mosaicism

Answer 6

Non-disjunction in early stage of zygote development –> plural genomes in one person

Question 7

Dosage Compensation

Answer 7

Ensuring equal gene expression in both sexes (sex chromosomes) –> Mamals inhibition of one X chromosome in females

Question 8

Heteroplasmy

Answer 8

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

Question 9

Genetic heterogeneity

Answer 9

similar, same phenotyoe with different genetic cause

Same Gene, different mutations, different disease

Same disease, different genes

Same disease, different genes, different inheritance patterns

Question 10

Genomic Imprinting

Answer 10

• 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

Question 11

Uniparental disomy

Answer 11

Two identical chromosomes from same parent Nondisjunction in Meiosis: Trisomy —> loss of one chromosome (unknown process) –> Uniparental disomy

Question 12

angiogenesis

Answer 12

Angiogenese, Blut Gefäß wachstum

Question 13

apoptosis

Answer 13

controlled cell death

Question 14

polyclonal disease

Answer 14

genetic variety (not just clones) of cells in one tumor

Question 15

Multilevel selection

Answer 15

Evolution, Selection can occur on different levels of cells, might give advantage for cell growth

Question 16

Driver mutation

Answer 16

First occurring mutation in cancer

Question 17

Proto-oncogene

Answer 17

Genes that function well but when mutation occurs might lead to cancer

Question 18

Oncogenes

Answer 18

Genes that cause Cancer –> promote growth of cell

Question 19

Malignancy

Answer 19

tendency of a medical condition to become progressively worse

Question 20

Heterogeneity

Answer 20

Two different alleles coding for same protein

Question 21

sporadic cancer

Answer 21

random cancer occuring

Question 22

passenger mutation

Answer 22

an other mutation that occurs after first cancer mutation (driver mutation) has occured

Question 23

cytogenetics

Answer 23

explore, how chromosome changes relate to cell division

Question 24

chromosome banding

Answer 24

staining of chromosomes

(colour dependant on number if transcription)

Question 25

Chromosome nomenclature

Answer 25

Question 26

Down syndrome: clinical features

Answer 26

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