Introduction to genetics Flashcards
define human genetics
variation and heredity in humans
define medical genetics
subcategory of human genetics that is important in medicine and medical research.
define molecular genetics
the study of the structure and the function of individual genes.
define clinical genetics
the application of genetics to diagnosis and patient care.
why might a child have clinical genetic referrals
birth anomalies
dysmorphic features
learning disabilities.
what might a adult have clinical genetic referral
diagnosis, predictive testing, carrier testing family history, fetal loss due to recurrent miscarriages
why might a pregnant women have clinical genetic referrals
known genetic disorders
abnormalities seen on the screen.
define genetic counselling
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.
why are the 4 types of testing used in clinical genetic referrals
diagnostic, predictive, carrier and prenatal.
what are the 2 aims of genetic counselling
give information
enable choice.
what 3 bits of information are key when making a genetic diagnosis.
family tree.
physical examination.
genetic tests.
what genes are mutated in genetic hypertension
renal salt balance- ENaC mineral corticoid receptor gene.
what genes are mutated in inherited diabetes
glucokinase transcription factor
what genes are mutated in inherited idiopathic epilepsy and migraines
familial epilepsies- ion channel KCNj10
what genes affect head size
ASPM
what genes affect autoimmune conditions
AIRE, TREX1, RNAseH2 complex genes.
define pharmocogenomics
Analysing entire genomes, across groups of individuals, to identify the genetic factors influencing responses to a drug.
define pharmacogenetics
studying an individuals genetic make up in order to predict reposes to a drug and guide prescription.
Gefitinib is a selective inhibitor to which receptor.
epidermal growth factor in the tyrosine domain.
increased levels in some cancers
why are mutations in the EGFR tyrosine kinase domain a problem for individuals with non small cell lung cancer.
Mutations in the EGFR tyrosine kinase domain confer increased sensitivity to tyrosine kinase inhibitors such as gefitinib (cancer treatment)
what condition is GLEVEC used to treat/
Treatment for CML targets at the novel fusion protein, the product of the translocation.
non genetic testing for genetics disorders.
blood tests- 2 types
1- enzyme assays (inborn errors in metabolism)
2- Haematology- full blood test.
X rays
skeletal dysplasia.
What are genetic tests used to detect.
genomic architecture- cytogentic, array based techniques
Gene faults- sequencing, OLA assays, MLPA tests.
Advantages of genetic testing
early diagnosis
carrier testing
prenatal testing
