definitions

Question 1

dynamic mutation

Answer 1

progressive expansion of repeat sequences, commonly triplet repeats

Question 2

DNA methylation

Answer 2

causes transcriptional silencing in the promoter region, C & G

Question 3

genomic imprinting

Answer 3

restriction of expression of either maternal or paternal allele
- mediated by methylation

Question 4

mutation

Answer 4

any permanent heritable change in the sequence of genome DNA

Question 5

genetic heterogeneity

Answer 5

the phenomenon that multiple different genetic abnormalities can result in the same disease phenotype

Question 6

polymorphism

Answer 6

a natural variant in the population, two or more alternative genotypes that exist in a population, at a frequency greater than that which could be maintained by recurrent mutation alone

Question 7

epigenetic trait

Answer 7

heritable phenotype resulting from a change in the chromosomes without any change in the DNA sequence
e.g. DNA methylation, miRNA