inherited disorders.

Question 1

sometimes a mutation happens in chromosomes of gameate. where will the faulty gene be?

Answer 1

present in every cell in the body.

Question 2

when there are faulty genes in every cell what can this be caused by , what does that mean for the future and what is the difference between inherited disorders?

Answer 2

in rare cases this can cause an inherited disorder.
there is a chance it can be passed down to the next generation.
some are dominant and some are recessive.

Question 3

polydactyly: what is it and does it cause any issues?

Answer 3

child growing extra fingers or toes.
no significant long term health problems.

Question 4

polydactyly: what is it caused by?

Answer 4

dominant allele.

Question 5

polydactyly: its caused by a dominant allele so how does this affect how its passed on?

Answer 5

only 1 parent is needs to pass on faulty allele for the child to get it

Question 6

polydactyly: what is a heterozygous dominant guaranteed to have?

Answer 6

a polydactyly child and a heterozygous parent will have a chance of having one.

Question 7

cystic fibrosis: what does it affect?

Answer 7

mucus that lines the respitory and digestive tract.

Question 8

cystic fibrosis: what do suffers have that others don’t and what health problems does it cause?

Answer 8

thicker mucus than normal which makes breathing harder and increases there chance of chest infections.

Question 9

cystic fibrosis: what’s wrong with their pancreatic duct?

Answer 9

can also be blocked and it leads to less digestive enzymes making their way into the intestine.

Question 10

cystic fibrosis: what can this affect in terms of food?

Answer 10

how many nutrients they can absorb from food.

Question 11

cystic fibrosis: how is it managed?

Answer 11

combination of physical therapy to remove mucus and drugs to improve digestion.

Question 12

cystic fibrosis: what is the long term solution?

Answer 12

heart and lung transplant.

Question 13

cystic fibrosis: what is it caused by?

Answer 13

recessive allele.

Question 14

cystic fibrosis: which individual suffers with it and who can pass it on out of those who are homozygous or heterozygous?

Answer 14

only homozygous recessive people are suffering from it and heterozygous people are normal but have the chance of having a child who suffers from it and they are know as carriers.

Question 15

cystic fibrosis: in the UK how many people are estimated to be heterozygous carriers?

Answer 15

1 in 25 people.

Question 16

cystic fibrosis: currently how many people approximately have cystic fibrosis and what is the likely hood for a baby to be born with it?

Answer 16

10,500.
about 1 in every 2500 babies born.

Question 17

genetic tests: what is involved in it and what age can it be done at?

Answer 17

analysis of a persons DNA to see if they carry alleles that cause genetic disorders. it can be done at any age.

Question 18

genetic tests: what are the three types of genetic tests?

Answer 18

antenatal testing, neonatal testing, pre-implantation genetic diagnosis (PGD)/ embryo screening.

Question 19

genetic tests: what are the difference between the two types of test?

Answer 19

one is done after birth and one is done before birth.

Question 20

genetic tests: what is antenatal testing used to do?

Answer 20

analyse an individuals DNA/ chromosomes before birth.

Question 21

genetic test: who is it offered to and what is a draw back to it?

Answer 21

to couples who may have an increased risk of producing a baby with an inherited disorder .
can’t detect all risks of genetic disorders.

Question 22

genetic tests: what is it also know as and what does it consist of, neonatal?

Answer 22

new born blood spot test.
analysing a sample of blood that is taken from pricking a baby’s heel.

Question 23

genetic test: what does a neonatal test detect?

Answer 23

genetic disorders in order to treat them early.

Question 24

genetic tests: when is embryo screening done?

Answer 24

embryos before implantation.

Question 25

genetic tests: how is IVF and embryo screening combined?

Answer 25

fertility drugs stimulate release of 7 eggs.
collected and fertilised in Petri dish.
once embryos reach 8 cell stage, 1 cell removed.
cells tested for disorder causing alleles.
embryos that don’t contain the disorder allele are implanted into the uterus.

Question 26

genetic tests: what are the limitations of genetic testing?

Answer 26

not available for every possible inherited disorder.
not completely reliable.
may produce a false negative or false positive results which can have serious consequences on the parents.

Question 27

genetic tests: what does a false positive look like?

Answer 27

genetic test that has wrongly detected a certain allele or faulty chromosome. the individual could believe something is wrong when it’s actually fine.

Question 28

genetic tests: what does a false negative look like?

Answer 28

genetic test that has failed to detect a certain allele or faulty chromosome. the parents may be wrongly reassured. these results could have a major impact on the lives of the individuals, through pregnancy termination, future decisions and planning the level of care needed for children with inherited disorders.

Question 29

genetic tests: why might people be against genetic test?

Answer 29

moral and spiritual reasons.

Question 30

genetic tests: what are the moral and spiritual reasons people may be against genetic tests?

Answer 30

stem from the strong belief that it is wrong to tamper with the natural process of reproduction.
with embryo screening techniques some of the embryos are destroyed. some people believe that this is the same as murder and so are against this process.

Question 31

explain why an animal or plant has two copies of each in its cells?

Answer 31

one copy from male whilst the other is from the female.

Question 32

bacteria can grow rapidly in mucus.
why do people with cystic fibrosis often get infections in their lungs?

Answer 32

can’t cough up mucus with bacteria in it. also they have excess mucus so increases likelihood.

Question 33

which part of the cell does cystic fibrosis affect?

Answer 33

cell membrane.

Question 34

explain why a person with two healthy parents might get cystic fibrosis?

Answer 34

parents are carriers.