Inheritance and Disease

Question 1

Genotype

Answer 1

genetic constitution of an individual

Question 2

Phenotype

Answer 2

Appearance of an individual (physical, biochemical, physiological) which results from the interaction of the environment and the genotype

Question 3

Allele

Answer 3

One of several alternative forms of a gene at a specific locus

Question 4

Polymorphism

Answer 4

Frequent hereditary variations at a locus

Question 5

Genomics

Answer 5

Study of entirety of DNA, the genome with technologies allowing sequencing, interpretation and analysis

Question 6

Penetrance

Answer 6

The proportion of individuals with a particular genotype who express the associated phenotype

Question 7

Hemizygous

Answer 7

Only one allele, locus on an X chromosome in a male

Question 8

Recognising rare disease using G.E.N.E.S

Answer 8

G - group of congenital (present from birth) anomalies
E - extreme presentation of common conditions(eg. recurrent miscarriages)
N - neurodevelopmental delay or early onset neurodegeneration
E - extreme pathology
S - surprising lab values (eg. v high cholesterol)

Question 9

Down Syndrome identified by…
Edwards Syndrome identified by…
Patau Syndrome identified by…
Prader Willi (morbidly obese) / Angelman Syndrome (very small) due to…

Answer 9

3 chromosomes 21
3 chromosomes 18
3 chromosomes 13
Deletions of allele 15q

Question 10

F.I.S.H.

Answer 10

Fluorescence in situ hybridisation - DNA probes labelled with fluorophores (bind to a specific gene and has dye on)