Introduction to genetics

Question 1

define human genetics

Answer 1

variation and heredity in humans

Question 2

define medical genetics

Answer 2

subcategory of human genetics that is important in medicine and medical research.

Question 3

define molecular genetics

Answer 3

the study of the structure and the function of individual genes.

Question 4

define clinical genetics

Answer 4

the application of genetics to diagnosis and patient care.

Question 5

why might a child have clinical genetic referrals

Answer 5

birth anomalies
dysmorphic features
learning disabilities.

Question 6

what might a adult have clinical genetic referral

Answer 6

diagnosis, predictive testing, carrier testing family history, fetal loss due to recurrent miscarriages

Question 7

why might a pregnant women have clinical genetic referrals

Answer 7

known genetic disorders

abnormalities seen on the screen.

Question 8

define genetic counselling

Answer 8

An education process that seeks to assist affected (at risk individuals understand: the nature of the genetic disorder, the nature of transmission and the options for management and family planning.

Question 9

why are the 4 types of testing used in clinical genetic referrals

Answer 9

diagnostic, predictive, carrier and prenatal.

Question 10

what are the 2 aims of genetic counselling

Answer 10

give information

enable choice.

Question 11

what 3 bits of information are key when making a genetic diagnosis.

Answer 11

family tree.
physical examination.
genetic tests.

Question 12

what genes are mutated in genetic hypertension

Answer 12

renal salt balance- ENaC mineral corticoid receptor gene.

Question 13

what genes are mutated in inherited diabetes

Answer 13

glucokinase transcription factor

Question 14

what genes are mutated in inherited idiopathic epilepsy and migraines

Answer 14

familial epilepsies- ion channel KCNj10

Question 15

what genes affect head size

Answer 15

ASPM

Question 16

what genes affect autoimmune conditions

Answer 16

AIRE, TREX1, RNAseH2 complex genes.

Question 17

define pharmocogenomics

Answer 17

Analysing entire genomes, across groups of individuals, to identify the genetic factors influencing responses to a drug.

Question 18

define pharmacogenetics

Answer 18

studying an individuals genetic make up in order to predict reposes to a drug and guide prescription.

Question 19

Gefitinib is a selective inhibitor to which receptor.

Answer 19

epidermal growth factor in the tyrosine domain.

increased levels in some cancers

Question 20

why are mutations in the EGFR tyrosine kinase domain a problem for individuals with non small cell lung cancer.

Answer 20

Mutations in the EGFR tyrosine kinase domain confer increased sensitivity to tyrosine kinase inhibitors such as gefitinib (cancer treatment)

Question 21

what condition is GLEVEC used to treat/

Answer 21

Treatment for CML targets at the novel fusion protein, the product of the translocation.

Question 22

non genetic testing for genetics disorders.

Answer 22

blood tests- 2 types
1- enzyme assays (inborn errors in metabolism)
2- Haematology- full blood test.

X rays
skeletal dysplasia.

Question 23

What are genetic tests used to detect.

Answer 23

genomic architecture- cytogentic, array based techniques

Gene faults- sequencing, OLA assays, MLPA tests.

Question 24

Advantages of genetic testing

Answer 24

early diagnosis
carrier testing
prenatal testing

Question 25

disadvantages of genetic testing

Answer 25

some diseases have no cure.
insurance proposes
screening informs of condition you will get but not when you will get it.