LECTURE 9 (Human genetics 2)

Question 1

How has hemophilia changed?

Answer 1

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

Question 2

What’s the NHS developing?

Answer 2

a project introducing genetics into medical practice

Question 3

What does it mean that a disease is tolerated?

Answer 3

that the individuals have a healthy life and are completely healthy

Question 4

give examples of sex- chromosome diseases that are tolerated.

Answer 4

XO: turner’s syndrome
XXX: trisomy x
xxy: klinefellers syndrome
xyy: not well defined

Question 5

Give an example of a non-sex chromosome disease tolerated.

Answer 5

the only one is the trisomy 21 (downs syndrome)–> floppy and low IQ

Question 6

Give an example of a partially tolerated disease.

Answer 6

cri du chat.

Question 7

What are multifactorial diseases?

Answer 7

Conditions caused by many contributing factors e.g genes and environment

Question 8

What are environmental sporadic diseases?

Answer 8

diseases caused by the environment e.g by a trauma or by a infectious particle e.g hiroshima survivors

Question 9

What’s the fragile X syndrome?

Answer 9

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

Question 10

How are monogenic diseases developed?

Answer 10

The imdv usually develops the condition through many genetic diseases steps developed in life

Question 11

What are complex traits? (diseases)

Answer 11

caused by genes that might be activated in some way by the environment

Question 12

What’s penetrance?

Answer 12

penetrance is defined as the percentage of individuals with a given allele who exhibit the phenotype associated with that allele.

Question 13

What’s a non penetrant individual?

Answer 13

an individual who has a disease genotype but hasn’t developed it yet

Question 14

What’s age related penetrance?

Answer 14

when imdv develop a disease later in life

Question 15

What’s a genetic test for?

Answer 15

to see whether someone has a genetic condition or not.

Question 16

What are the requirements for genetic tests?

Answer 16

• 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.

Question 17

What’s the difference bt testing and screening?

Answer 17

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

Question 18

What are all babies in the uk checked for?

Answer 18

CF, sickle cell, mcadd and phenylketonuria.

Question 19

comparison tests?

Answer 19

to compare with other family members and see whether certain individual is gonna develop certain disease.

Question 20

what are the benefits of comparison tests?

Answer 20

• can be used to prevent

- allow life choices

Question 21

what are the harms of comparison tests?

Answer 21

• psychological distress
• risk for insurance
• diagnosis of child w/o parent consent

Question 22

what can be done for establishing identity?

Answer 22

DNA fingerprinting in foresic

Question 23

how is DNA fingerprinting done?

Answer 23

collect sample
generate DNA difference
asses the difference
assign a match 
did defendant contribute'

Question 24

what’s the innocent project?

Answer 24

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.[

Question 25

How was richard the III related to relatives?

Answer 25

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

Question 26

paternity testing, does it always work?

Answer 26

do not always work because sometimes some weird patterns are observed
never base a whole study on a single test!!