Question

Hurlers syndrome

1. Perhaps you and/or your significant other is a carrier of a harmful recessive trait, such as cystic fibrosis. What would you do when considering having children? Would you hope for the best and ignore the situation, or would you see a genetic counselor or what?

Explain what type of genetic defect or disorder it is. Explain how this genetic anomaly occurs. Is it autosomal or sex linked? Is it dominant, recessive, or aneuploidy?

You should include what the effects are for individuals, what are the survival rates, is there a higher risk in certain populations, and any other interesting information.

genetics on a person. Latin (Colombian) female with a European (Hungary) male

Answer 1

1.Would definitely like to see a genetic counceller to know the probability of the child inherting the condition , so that the parents would be prepared to meet any challenges with the child having the disorder.

2. Cystic fibrosis is a genetic disorder caused by a recessive autosomal gene. The gene is CFTR gene which codes for the CFTR protein. A mutation in the CFTR protein results Cystic fibrosis disoreder. Normally , if the parents are carriers for the defective allele of the CFTR gene, there are possibilities of the child born with CF condition. 25% possibility is there for a CF child birth. Mother Cc and father Cc child can have the disease.

3. Cystic fibrosis effects the structures in the body which produce nucus, digestive enzymes, sweat etc. The fluids produced by these structures are normally thin and lubricate the region. But a person suffering from Cystic fibrosis will have thick secretions of these regions. Because of this the passages in which these are produced will become clogged may be life threatening. Accumulation of thick fluid also can cause infections, malnutrition etc.

Cystic fibrosis is more common in white populations, occurring 1 in 2500 to 3500 births in white Americans. Where 1 in 17000 African Americans and 1 in 31000 Asian Americans. It is observed by scientists that females suffer more with Cystic fibrosis than males . This is because Oestrogen present in the female body supports growth of certain bacteria and causes more symptoms in the female. The average life span of people with cystic fibrosis is 37 years.

Lung complications cause death in the individuals. The onset of the disease may start from child hood or later in adolescence. But CF screening is done at birth to find out if the mutated allele is present.

Genetics of Cystic Fibrosis:

If parents are carriers, 25% chances are that the child can be Cystic fibrosis.