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Question 22

Provides information to patients and others who have concerns about human genetic diseases

Answer 22

Genetic counselling does what?

Question 23

1. Begins with a diagnosis of the condition.
2. Then genetic counsellor meets with patient and members of family and explains diagnosis.
3. Family pedigree may be constructed and probability of passing condition to future generations can be calculated.
4. Ask questions.
5. Explains about genetic testing and then helps to interpret the test results.

Answer 23

Steps for genetic counselling are

Question 24

provide information and facilitate discussion but do not bring their own opinions and values into the discussion. this is traditional practise.

Answer 24

What is non-directional advise in genetic counselling?

Question 25

yes.

Answer 25

Because of growing number of genetic tests and the complexity of assessing genetic risk there is now some movement away from completely nondirected counselling. Is this true?

Question 26

recognise the potential for a genetic disease to arise at an early stage

Answer 26

Genetic testing is done to

Question 27

1. Prenatal testing
2. Post natal testing
3. Population testing

Answer 27

Name three types of general, overall genetic testing?

Question 28

No

Answer 28

Is genetic testing done for things like sex selection or high IQ or blond hair?

Question 29

1. Chromosome abnormalities - examination of a karyotype from cells obtained by amniocentesis or chorionic villus sampling
2. Cleft lip and palate - ultrasound
3. Cystic fibrosis - DNA analysis of cells obtained by amniocentesis or chorionic villus sampling
4. Dwarfism - ultrasound or x-ray, some forms can be detected by DNA analysis of cells obtained by amniocentesis or chorionic villus sampling
5. Hemophilia - fetal blood sampling or DNA analysis of cells obtained by amniocentesis or chorionic villus sampling

Answer 29

Name five types of genetic testing and the methods used.

Question 30

When direct visual can show it, such as with neural tube defects and skeletal abnormalities.

Answer 30

When is ultrasonography used for detecting genetic conditions?

Question 31

is using needle to pierce abdominal wall to get amniotic fluid so the fetal cells can be used for genetic testing. Performed at about 15-18 weeks of pregnancy.

Answer 31

Explain amniocentesis

Question 32

can be performed earlier than amniocentesis at the 10-12 weeks of pregnancy. Catheter placed into vagina and pushed through cervix into uterus. A small piece of chorion (outer layer of placenta) is taken off for testing.

Answer 32

What is chorionic villus sampling?

Question 33

a picture of a complete set of metaphase chromosomes.

wikipedia: A karyotype is the number and appearance of chromosomes in the nucleus of a eukaryotic cell. The term is also used for the complete set of chromosomes in a species, or an individual organism.

Answer 33

What is a karyotype?

Question 34

increased

Answer 34

The amniocentesis and chorionic villus sampling both have ________ risk of spontaneous abortion of the foetus.

Question 35

They give an indication of increased risk but follow up, more invasive tests need to be done from there.

Answer 35

How thorough are maternal blood screening tests?

Question 36

It is a noninvasive fetal diagnosis where it is able to detect and separate fetal blood from maternal blood. this is new and not yet routine.

Answer 36

What is fetal cell sorting?

Question 37

testing for genetic disorders in newborn infants. Many US states have mandatory screening of 29 conditions which is just conducted by placing a drop of the infant’s blood on a card soon after birth.

Answer 37

Newborn screening is?

Question 38

testing healthy adults for genes that might predispose them to a genetic condition in the future. Ie for certain cancers.

Answer 38

What is presympotmatic testing?

Question 39

Population tested to identify heterozygous carriers of recessive disease causing alleles. People tested are healthy but have the potential to produce children with a particular disease.

Example is In USA a group of Ashkenazi Jews has been tested for Tay Sachs. This group has a 100 times higher incidence of Tay Sachs. Heterozygote screening means people at risk of having offspring with Tay Sachs may decide not to have children

Answer 39

What is heterozygote screening? And give example of how this has been done.

Question 40

1. presence of multiple causative mutations
2. incomplete penetrance
3. influence of environmental factors.

Answer 40

Name three ways that interpreting genetic tests is complicated

Question 41

Tests where consumer can get the tests done directly with the laboratory for a wide range of tests.

Answer 41

What are direct-to-consumer genetic tests?

Question 42

1%

Answer 42

Humans and Chimpanzees differ only in ___ of their genomes

Question 43

1. FOXP2 - required for human speech.
2. MCPH1-6 - affects brain size.
3. HAR1 - development of cerebal cortex perhaps which is enlarged in humans.
4. MYH16 - muscle in jaw that affects jaw movement for speech perhaps

Answer 43

Name four genes that have been found to relate to humanness?