16

Question 1

what’s a mendelian trait

Answer 1

a trait that is mainly controlled by one gene like eye coloraturas as opposed to complex trait.

Question 2

Whats an autosome

Answer 2

a chromosome that is not directly involved in determining the sex of an organism

Question 3

what’s a sex chromosome

Answer 3

a chromosome that determines whether an organism is male or female

Question 4

give example of autosomal dominant diseases

Answer 4

Huntington disease, Marfan syndrome, neurofibromatosis type 1 and polycystic kidney disease

Question 5

give example of autosomal recessive diseases

Answer 5

Phenylketonuria, Tay Sachs disease, albinism, sickle cell disease, glycogen storage diseases (McArdle’s disease)

Question 6

give example of x linked recessive diseases

Answer 6

Haemophilia A and B, Hunter syndrome, Duchenne and Becker MD.

Question 7

Mutation in HD

Answer 7

huntington protein is mutated with CAG repeats trinucletoide repeat sequences leading to multiple copies of glutamine.

Affects protein folding and shape of cortical neurones.

the more cag repeats the more severe

Question 8

CF mutation

Answer 8

mutation in CFTR membrane chloride transport channel. water is cotransported w sodium so problem there.

Question 9

what are the two types of musclar dystrophies and how are they different

Answer 9

both are a result of mutation in dystrophin gene

Duchenne muscular d: early onset, cardiomyopathies are common. mutation are all in frame (in frame deletion, in frame duplication or missense mutation)
beckers md: late onset, rare cardiomyopathies (out of Fram edeletion, out of Fram duplication or nonsense mutation

Question 10

what is the role of dystrophin

Answer 10

Dystrophin interacts with actin in muscles. Dystrophin attaches to glycoprotein complex in membrane which interacts with laminin which interacts with basal lamina. So these proteins are important in attaching the cytoskeletal proteins I the muscle to ECM.

Question 11

what 4 things must you keep in mind regarding issues w genetic testing

Answer 11

autonomy
privacy
confidentiality
equity

Question 12

sources of genetic testing

Answer 12

saliva, blood, buccal smear, newborn heel prick,

Question 13

list different types of genetic testing

Answer 13

Preconception testing
Pharmacogenetic testing: how you respond to drugs
Prenatal testing of cell-free DNA (maternal blood)
Pre-implantation genetic diagnosis (IVF)

Question 14

how much DNA do you need to carry out genetic testing

Answer 14

2 x 10^10 copies of DNA

Question 15

what is anticipation

Answer 15

phenomenon whereby as a genetic disorder is passed on to the next generation, the symptoms of the genetic disorder become apparent at an earlier age with each generation. In most cases, an increase of severity of symptoms is also noted.

Question 16

when would you refer a patient to genetic counselling

Answer 16

The patient seeking specialist advise on genetic disorder found in their family to assess risk to self and offspring (such as in the case of Huntington disease and cystic fibrosis)

Genetic diagnosis and interpretation

Assessing risk in cases of family history of diseases such as cancer.

The patient is pregnant and wants to discuss an abnormal test result and understand options