genetics

Question 1

describe basic structure and packaging of chromosomes

Question 2

describe lab diagnosis of genetic disease due to abnormalities in chromosome number

Question 3

describe types of structural chromosomal abnormalities

Question 4

describe characteristics of mendelian inheritance, both autosomal and sex-linked

Question 5

construct and use human pedigrees to establish patterns of inheritance

Question 6

calculate genetic risk from pedigree structure

Question 7

describe double-helical structure of DNA

Question 8

DNA replication process

Question 9

base-sequence of DNA is transcribed into base-sequence of RNA

Question 10

outline post-transcriptional processing of RNA

Question 11

translation of mRNA

Question 12

describe types, effects and nomenclature of mutations

Question 13

describe application of molecular genetic technology to identify genetic mutations associated with disease

Question 14

basic mechanism of inherited predisposition to cancer & role of testing for sporadic mutation in oncology

Question 15

describe main reasons that individuals are referred to genetics to discuss a FH of cancer

Question 16

discuss clinical relevance of population selection pressures

Question 17

discuss clinical relevance of ethnic genetic variation

Question 18

give examples of how genomics is used in clinical practice

Question 19

describe mechanisms of non-Mendelian inheritance

Question 20

define penetrance

Question 21

appreciate role of environment in genetic disease