Genetics in Medicine

Define human genetics:

the science of heredity and variation in humans

Define medical genetics:

the subset of human genetics that is important in medicine and medical research

Define molecular genetics:

the study of the structure and function of individual genes

Define clinical genetics:

the application of genetics to diagnose and improve patient care

What are the three major uses of genetic testing?

1) predictive testing

2) carrier testing

3) prenatal testing

Give three pros of genetic testing:

1) early diagnosis and intervention

2) carrier testing informs reproductive choices

3) prenatal testing informs reproductive choices

Give two cons of genetic testing:

1) getting news of an impending disease that has no cure is difficult

2) can affect insurance prospects

What is genetic counselling?

an educational process to help affected individuals or those at risk to understand the nature of genetic disorders, how it is transmitted and the options for management and family planning

Describe how increased glucose levels causes the exocytosis of insulin from beta pancreatic cells: (5)

1) glucose is taken into the cell via transport proteins

2) glucose is metabolised into ATP

3) ATP inhibits K+ ion channels, causing depolarisation

4) such depolarisation causes Ca2+ channels to open

5) this causes exocytosis of insulin from the cell

Describe the rare genetic form of diabetes:

a mutation can affect the K+ ion channel, meaning it isn't inhibited and insulin isn't secreted

What disease does the Philadelphia chromosome cause?

chronic myeloid leukaemia

The translocation between which two chromosomes creates the Philadelphia chromosome?

9 and 22

How does the Philadelphia chromosome cause chronic myeloid leukaemia?

it creases the BCR-ABL complex which acts as a tyrosine kinase, phosphorylating proteins, causing cell proliferation

What is pharmacogenetics?

studying an individual's genetic makeup in order to predict responses to a drug and guide perscription

What is pharmacogenomics?

analysing entire genomes across groups of individuals to identify the genetic factors influencing responses to a drug