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Genetic Diseases

A genetic disease or disorder is a condition caused by abnormal genes or chromosomes. Some of the more common genetic diseases are Angelman syndrome, celiac disease, cystic fibrosis, Down syndrome, hemophilia, Klinefelter syndrome, sickle-cell disease, and Turner syndrome.

518 Questions

What is reverse tandem duplication?

duplicated segment is inverted and adjacent to the original

Do mutations always alter the encoded protein structure and function?

No. Since a mutation in the DNA may not necessarily result in a change to the encoded amino acid in the protein sequence, it is entirely possible.

Further, the protein function will likely not change when an amino acid is replaced with one of similar chemical properties. Sometimes it does, sometimes it doesn't. This is the field that molecular evolutionary biologists study.

How do you make and interpret Punnet squares for Autosomal and sex-linked traits?

The simplest type of Punnet square is a 2x2 square. You split up the alleles for mother and father and place them on the sides of the large square. Then you "drop" them to determine the possible genotypic and phenotypic ratios. For example, if the mom is Aa and the dad is Aa as well, then using the square, the possible combinations will be AA, 2 Aa, and aa. In this case, assuming A is the dominant allele, then there will be a 3:1 ratio of dominant phenotypes to recessive phenotypes. The genotype ratio will be 1:2:1, indicating 1 homozygous dominant, 2 heterozygous and 1 homozygous recessive genotypes.

This can be done for sex linked traits too. Use XX and XY for the parents and make the same box. For example, if it is an X linked recessive disorder and it is between XY and XX' then the possible outcomes are XX, XX', XY and X'Y. Here there is a 1/2 chance that the child, regardless of gender will be normal, 1/4 that the child (girl) will be normal but a carrier and 1/4 that the child (boy) will be affected.

What are the odds of having a baby beckwith weidemann syndrome?

the odds of having a baby with beckwith weidemann syndrome is 1 in 13,700 in the united states. that is 300 per year.

Why is it that some point mutations can cause severe genetic diseases while others have no noticeable effects?

There are three main types of point mutations: nonsense, missense, and silent. Nonsense mutations code for a stop instead of the intended amino acid, which cuts short the protein and can cause problems. Missense mutations code for a different amino acid than the one intended and can cause problems.

Silent mutations, on the other hand, can, while they make a change in a specific base, still code for the same amino acid. Also, they could code for a different amino acid but cause no change in the overall function of the protein. In this case, there would be no noticeable effects due to the mutation.

What is a pathhogen?

a mix between a spanish monkey and an indan wild cat

Does progeria affect males more then females?

Progeria is so rare that scientists have not been able to determine who is likely to get it. They believe it has a genetic component, but they have not been able to identify the exact cause or any risk factors.

What are a woman chance of being a carrier for hemophilia if she phenotypically a normal woman and has phenotypically normal parents but has a hemophiliac brother?

She has 1/2 chance. We can figure out exactly what her parents' genotypes were.

Her brother has a Hemophilia allele that he got from his mom. So their mom has at least 1 Hemophilia allele. If she had 2 then she would have Hemophilia.

The father cannot have a Hemophilia allele because it would have been expressed.

So her chances are 1/2 because her mother has 1 Hemophiliac and 1 normal allele.

Should specific genes decide what you do in life?

no... your, your own person be who you are . just because of a bad gene doesn't mean you can't do great things, live your dream, of whatever "u" want to do ;) <3