LECTURE 9 (Human genetics 2) Flashcards
How has hemophilia changed?
It has changed so much. it was completely lethal years ago whereas now even sport people can have it with the correct treatment by injecting recombinant factor 8
What’s the NHS developing?
a project introducing genetics into medical practice
What does it mean that a disease is tolerated?
that the individuals have a healthy life and are completely healthy
give examples of sex- chromosome diseases that are tolerated.
XO: turner’s syndrome
XXX: trisomy x
xxy: klinefellers syndrome
xyy: not well defined
Give an example of a non-sex chromosome disease tolerated.
the only one is the trisomy 21 (downs syndrome)–> floppy and low IQ
Give an example of a partially tolerated disease.
cri du chat.
What are multifactorial diseases?
Conditions caused by many contributing factors e.g genes and environment
What are environmental sporadic diseases?
diseases caused by the environment e.g by a trauma or by a infectious particle e.g hiroshima survivors
What’s the fragile X syndrome?
main cause of mental retardation in males. it’s due to a cgg repeated sequence, the more repeats the more severe the mental retardation it affects more males than females
How are monogenic diseases developed?
The imdv usually develops the condition through many genetic diseases steps developed in life
What are complex traits? (diseases)
caused by genes that might be activated in some way by the environment
What’s penetrance?
penetrance is defined as the percentage of individuals with a given allele who exhibit the phenotype associated with that allele.
What’s a non penetrant individual?
an individual who has a disease genotype but hasn’t developed it yet
What’s age related penetrance?
when imdv develop a disease later in life
What’s a genetic test for?
to see whether someone has a genetic condition or not.
What are the requirements for genetic tests?
- don’t expect all disease causing variants to be found.
- a genetic change in a gene can be seen as a candidate for the disease but that does not mean that the mutation has been found.
What’s the difference bt testing and screening?
testing is to investigate a crinical problem e.g prenatal testing of embryos to see abnormalities. and to corming a genetic disease made on symptoms
screening is examine a healthy population to prevent a later disease
prenatal screens
What are all babies in the uk checked for?
CF, sickle cell, mcadd and phenylketonuria.
comparison tests?
to compare with other family members and see whether certain individual is gonna develop certain disease.
what are the benefits of comparison tests?
- can be used to prevent
- allow life choices
what are the harms of comparison tests?
- psychological distress
- risk for insurance
- diagnosis of child w/o parent consent
what can be done for establishing identity?
DNA fingerprinting in foresic
how is DNA fingerprinting done?
collect sample generate DNA difference asses the difference assign a match did defendant contribute'
what’s the innocent project?
a project using DNA technology to see if people have contributed to a crime penetrance is defined as the percentage of individuals with a given allele who exhibit the phenotype associated with that allele. The Innocence Project is a non-profit legal organization that is committed to exonerating wrongly convicted people through the use of DNA testing and to reforming the criminal justice system to prevent future injustice.[
How was richard the III related to relatives?
all his family was dead but he had living descendants from other branches they managed to take DNA from the skeleton and use Y chromosome
paternity testing, does it always work?
do not always work because sometimes some weird patterns are observed
never base a whole study on a single test!!
