r/genetics • • 5h ago

pili annulati

Thumbnail
gallery
14 Upvotes

hi all!! for as long as i can remember everyone in my family has told me how they’ve never seen anybody with hair like mine each strand has lighter and darker bands making my hair essentially ringed the bands were originally blonde brown and almost a pink color. as i’ve gotten older my hair has gotten darker i was very blonde as a child and that’s when the banding was the most noticeable even when i dye my hair the banding still shows and nobody else in my family has hair like mine. i was looking into it and pili annulati can be genetic but there is only 50 reported cases since the 1800’s.


r/genetics • • 14h ago

Career/Academic advice Nursing student who wants to work in genetics. What are my options?

5 Upvotes

I'm a sophomore in a 4-year nursing program. I was always into genetics in high school, but I chose nursing because of the vast opportunities it offers. Now that I'm in college, I'm wondering how I can incorporate genetics into my career. I do well in my science classes and enjoy them, and the closest thing I have to a dream job would be a genetic counselor. The genetic counseling job market doesn't seem great, so I'm also considering medical geneticist, and I know the RN to MD path is becoming more popular. I'm wondering what options and paths might work for someone in my position, especially from anyone who has gone from nursing into genetics. Thank you!


r/genetics • • 10h ago

Am I insane?

Thumbnail
gallery
3 Upvotes

Taking general genetics at a university and wondering if I’m just not used to upper level courses yet or if this genuinely is way too much material to learn for one exam. We “covered” this in 4 weeks but was mostly just bullet points read to us off slides. I’m feeling too far behind and rather hopeless. Sorry about the mobile uploads was best I could do on this study crunch time.


r/genetics • • 14h ago

How does MMR even function properly ?

1 Upvotes

Hello, I am a student in health sciences. I have recently come upon a simple question that I could not find the answer of:

In mismatch repair (MMR), the basic function in E.Coli requires Mut H to attach to a partially methylated sequence GATC. From my understanding, this GATC sequence determines the cleaving point of the DNA from the exonuclease. If such a statement is correct, how would this remove a single nucleotide and not...everything from the Mut S fixing point to the Mut H fixing point, which would include the entire genetic sequence from the mismatch to the GATC sequence ?


r/genetics • • 8h ago

Article Are these 2 genetic mutations often found together, and what are they associated with?

0 Upvotes

The first genetic mutation I’m referring to is: the Val158Met polymorphism.

The COMT gene encodes catechol-O-methyltransferase, an enzyme that breaks down synaptic dopamine (DA) and norepinephrine (NE). The best studied polymorphism of the COMT gene is a single G>A substitution at codon 158 (rs4680), resulting in a valine (Val) to methionine (Met) amino acid change. This Val158Met polymorphism results in a decrease in COMT enzymatic activity, which can be described in a trimodal pattern for three genotypes: high in Val/Val, intermediate in Val/Met, and low in Met/Met. Reduced COMT activity results in less catecholamine degradation and can lead to increased baseline levels of synaptic DA/NE.

The Val158Met polymorphism (rs4680) in the COMT gene can affect baseline levels of synaptic catecholamines.

The second genetic mutation I’m referring to is the -1438G>A polymorphism for the Serotonin Receptor Type 2A.

When I’ve typed the name for this mutation into search engines and looked it up, a lot of the time I find research articles and studies discussing a different type of mutation involving the Serotonin Receptor Type 2A. I’ve found studies on the 102T/C polymorphism and how it may interact with other mutations to affect a person’s risk of developing or having panic disorder.

Are these mutations commonly found together? What are they associated with when they are found together? I know that the Val158Met genetic mutation has been extensively studied, but I’m curious as to how someone would be affected if they had both of these mutations together, especially because the Val158Met mutation seems to be associated with a lot of problems.

I’m aware how it would affect someone would vary widely by genotype. How would it affect someone if they have 2 copies of the Met allele (referring to the Val158Met) and are homozygous for the G allele referring to the other mutation?

Any information is appreciated.

Sources for the information about the Val158Met mutation:

https://genesight.com/white-papers/get-to-know-a-gene-comt/