In: Biology
Imagine that you have a particular genetic trait and that you have four children. Two of the four children also possess this trait. Meanwhile, the other biological parent of your children does not possess the trait. •Explain why you think the trait in the scenario is dominant or recessive. •Based upon your response, describe why it would or would not be possible for the trait in the scenario to “skip” a generation. •Patterns of inheritance within organisms like pea plants, fruit flies, mice, and others are somewhat easy to determine since their mating practices can easily be controlled. Apart from controlling who mates with whom, what other characteristics make species like these ideal for studying genetics? •Select and describe a health problem that you believe has a genetic component at least partially inherited. If you do not identify an inherited health condition within your family, choose a disease that interests you or impacts a friend or other family member. Would you be interested in having genetic testing to determine whether you carry a genetic mutation for a particular disorder or a genetic predisposition for a disease? Why/why not? What are the advantages and disadvantages of determining your predisposition? •Explore the current state of research for the health problem you selected. Focus on one of the following to discuss as they relate to the genetics of the disease: •Cause •Testing/Screening/Prevention •Treatments/Therapies/Cures •Discuss similarities and differences between the diseases you and your classmates describe. Review the Discussion guidelines
Ans: The trait in the scenario would be dominant as two of the
four children also have this trait and this is only possible when
the trait is dominant, because the other arent does not has this
trait. The children get one copy of the allele from both the
parents, so if the trait were recessive, the children would not had
the trait.
As only two of the children have this trait, only one allele is
affected, so it is possible for the trait to skip a generation, if
only the other allele is passed to the children.
The size, generation time, accessibility, easy manipulation,
genetics are some characterstics that make these ideal for
study.
Cystic fibrosis (CF) is a genetic disorder that affects mostly the
lungs, but also the pancreas, liver, kidneys, and intestine. Other
issues include difficulty breathing and coughing up mucus due to
frequent lung infections. Other signs and symptoms include sinus
infections, poor growth, fatty stool, clubbing of the fingers and
toes, and infertility in most males.
CF is an autosomal recessive disorder. It is caused by the presence
of mutations in both copies of the gene for the cystic fibrosis
transmembrane conductance regulator (CFTR) protein.Those with a
single working copy are carriers and otherwise mostly normal.
Cystic fibrosis can be diagnosed by many different methods like
newborn screening, sweat testing, and genetic testing.
Pregnant women or couples can have themselves tested for the CFTR
gene mutations to determine the risk wheather their child will be
born with CF. Testing is typically performed first on one or both
parents and, if the risk of CF is high, testing on the fetus is
performed.
There is no full treatment of CF. But with management the person
can live a good life.The important aspects of management are the
proactive treatment of airway infection, and encouragement of good
nutrition and an active lifestyle. Pulmonary rehabilitation as a
management of CF continues throughout a person's life, and is aimed
at maximizing organ function, and therefore the quality of
life.
There is a lot of research going on for CF. Gene therapy has been
explored as a potential cure for CF. Results from clinical trials
have shown limited success.
I would not be interested in having a genetic testing done for a
particular genetic disorder as my family has no history of genetic
disorder. The advantages of determining of predisposition are that
we can have a clear idea that we may or may not have the disease,
chances of future generations having the disease, treatment can be
started early.