My father had jet black hair (now bald) and my mom has very dark brown hair where a one pigment difference would make it black.

I, however, have dark brown hair lighter than my mom's and dad; you would not think its black until I put water or products in my hair.

My sister has clearly brown hair and could never be mistaken for black; it resembles my maternal grandmothers hair.

I was wondering how could I get lighter hair then both of my parents who have very dark brown hair?

Hi all, Brain has gone into overdrive so need somewhere to at least see if anyone knows any info while I wait for blood tests.

We terminated our baby for Trisomy 21 last week. We had a CVS which confirmed that. The doctor called this morning to say not only did the baby have Tri21, but they also had a chromosomal deletion. She didn’t know a whole lot about it so has referred us to a genetic counsellor, but she said it was chromosome 1 and it’s quite rare to see this alongside tri21.

I’ve obviously googled.. and it seems there’s two different deletions of chromosome1 (correct me if I’m wrong) so I guess that could change outcome…?

Anyone know literally anything about this? We already have 2 kids - would this not have showed up in their NIPT tests? Is it hereditary? Are we risking future babies?

Hello,

I have some questions about the inheritance of Retinitis Pigmentosa (RP) that I hope people here can explain to me, a guy with zero knowledge of genetics.

My birth father has RP, and so do 2 of his siblings and their mother.

My maternal grandfather also had RP, in addition to his sister’s grandchild (my 2nd cousin). Since my maternal grandfather had it, does that mean my mother was a carrier? She recently passed so I can’t find out.

I have 1 brother with RP and 2 brothers who don’t.

What is the likelihood I am a carrier of the disorder? Is it even possible I can pass the disorder to my children? Specifically, could I have given it to my daughter?

Any insight is much appreciated!

I have data that reveals multiple markers (15-16) located at the same position on a chromosome, each showing different fixed alleles. For instance, Marker A on chromosome 1A at position 24409 has the G allele fixed, with a PIC (Polymorphism Information Content) score of 0. Similarly, Marker B on chromosome 1A at the same position has the C allele fixed with a PIC score of 0.

My uncles sent me this article alleging that Greeks are more similar to sub Saharan Africans than their Balkan neighbors (this makes absolutely no sense to me whatsoever but I gave the article my due diligence). How does this make any sense?

Abstract: HLA alleles have been determined in individuals from the Re- public of Macedonia by DNA typing and sequencing. HLA-A, -B, -DR, -DQ allele frequencies and extended haplotypes have been for the first time determined and the results compared to those of other Mediterraneans, par- ticularly with their neighbouring Greeks. Genetic distances, neighbor-join- ing dendrograms and correspondence analysis have been performed. The following conclusions have been reached: 1) Macedonians belong to the ‘‘older’’ Mediterranean substratum, like Iberians (including Basques), North Africans, Italians, French, Cretans, Jews, Lebanese, Turks (Anatolians), Ar- menians and Iranians, 2) Macedonians are not related with geographically close Greeks, who do not belong to the ‘‘older’’ Mediterranenan substratum, 3) Greeks are found to have a substantial relatedness to sub-Saharan (Ethiop- ian) people, which separate them from other Mediterranean groups. Both Greeks and Ethiopians share quasi-specific DRB1 alleles, such as *0305, *0307, *0411, *0413, *0416, *0417, *0420, *1110, *1112, *1304 and *1310. Genetic distances are closer between Greeks and Ethiopian/sub-Saharan groups than to any other Mediterranean group and finally Greeks cluster with Ethiopians/sub-Saharans in both neighbour joining dendrograms and correspondence analyses. The time period when these relationships might have occurred was ancient but uncertain and might be related to the displace- ment of Egyptian-Ethiopian people living in pharaonic Egypt.

(disclaimer: I'm a total noob!)

I've done the 100% test and downloaded the results, so I should have my full genome now. I'm trying to figure out what things mean. While doing that, I came across a deletion on this SNP. The gene.iobio service reports that AT has been deleted to just a single A.

According to https://www.ncbi.nlm.nih.gov/snp/rs397896400 , a delT seems to be a European thing. Also, AFAICT we're supposed to have lots of T's. I got none. Is the data broken, or am I? ;-)

Hi, just wondering how rare would it be to have 2 pathogenic variants from one parent? Tested positive for 2 pathogenic variants for an autosomal recessive disease. Had a bunch of tests and scans run, and came back negative. Completely stumped doctors. Genetic counselor said it's very rare, but she thinks I have 2 variants on one gene! Have you guys ever worked with anyone like me who has 2 variants on one chromosome? For context: the disease is ARPKD. Very deadly for kids. I'm 28 and completely uneffected!

I was just wondering, I was thinking on how my grandmother sounded like (something that i will never hear). But that maybe one of my relatives have the same « voice » as her. But I don’t even know if voices are inherited.

Privacy is the highest priority I do not consent to my information being sold or used for medical research purposes.

Whole genome so 100% of my DNA.

Also I work as a ML engineer so I would like to find a company that will give me the data. Storage doesn’t matter.

I did some research and have a list of companies but Im curious of anyone who went through this. Transparency and legitimacy of the company is something I value.

Warning: Rubbish ancestry data. Lets say I'm looking up random rs1122334455, position 10 on https://www.ncbi.nlm.nih.gov/snp/rs1122334455 There I read "rs1122334455 was merged into rs6677889900 on date.." with position 10-21. For the former it is TCT (I have delTCT,delTCT) and for the whole merged thing it's TCT[4].

For the first set of TCT I see a big pink marker in the genome browser with the remark 'pathogenic' for delTCT. (clinVar variants with precise endpoints)

Trying to find out more on the merged rs6677889900 I read that delTCT and dupTCT are pathogenic. There are a few papers on this. Judging by the genome browser this should only be the first TCT and not TCT[4], so I guess how this is written is super confusing to me. I can't find anything on rs1122334455 other than an SNPedia entry which only says that delTCT is pathogenic, and common with magnitude 0, green colour. On the merged rs6677889900 I read that TCT is common with magnitude 0, and a quick explanation that dupTCT and also delTCT are considered in ClinVar to be pathogenic for xyz.

I'm basically just trying to understand what I'm looking at here. Is the old SNpedia entry wrong? Am I not understanding this?

This question does have a background. I just had a blood draw for selected genetic testing (full sequencing is not a thing here). This gene is not included in it and I'm uncertain whether to ask the doctor to include it. I feel like I don't understand this and I don't want to sound ridiculous.

All human haplogroups are believed to had come from the cromosomical Adam, a man living in Southeastern Africa about 150.000 years ago. His other male contemporaries may also have descendants alive today, but not, by definition, through solely patrilineal descent; in other words, none of them have an unbroken male line of descendants (son's son's son's … son) connecting them to currently living people.

However, could there be around humans coming from an unbroken male line going back to...Denisovans from Southeast Asian/Oceanian archipelago (the world area with the most interspecies mixing)? Would the humans with Denisova haplogroups have to be from an uncontacted and unsapled tribe, because we sampled already all known people and we never found non human haplogroups ?

Neanderthals themselves had a sapiens haplogroup, which means they could not gave a neanderthalensis haplogroups to us, but Denisovans could have given a Denisova haplogroup to humans the same way an extinct lineage of humans gave its own to Neanderthals.

I feel like I’ve been hearing for the last twenty years since I was in elementary school that we’re soooo close to cloning a mammoth into an elephant. How close are we really?? I wanna see a mammoth in my lifetime.

I see one hormone secreted amount by one type of cell differs from another type of the cells secreting the same hormone. Are different regulatory proteins regulating transcription and gene expression the only reason?

I am sorry. Please do not write negative points about my simple questions. These days I am down and struggling with many problems. Do not add to them. Thank you in advance.

Basically would the screening my mother had while pregnant have picked it up, or is it a different mutation that causes the late onset types.

it seems a lot of families with twins, identical or fraternal have multiple pairs, or have close relatives with twins as well. is this a genetic thing, where a family member hold the gene to have twins? and if so how?

I recently came across a genetic mutation c.1534C>T (p.Arg512Ter) for SDHA, and I'm trying to understand its implications better. This mutation, heterozygous in this case, is from what I've read, known to be pathogenic for PPGL syndrome (neuroendocrine tumors) but also mutations of primarily SDHA but also some other SDHx have been linked to mitochondrial diseases all revolving around complex II aka SDH.

Only considering the mitochondrial disease and not the tumorigenic part, i've found that it can manifest in two forms: bi-allelic (compound heterozygous or homozygous) and true heterozygous. The bi-allelic forms usually present in infancy and are often fatal, while the true heterozygous forms generally present in adulthood with a wide range of symptoms. Notably, there's only one known dominant pathogenic (heterozygous) mutation in SDHA, which is c.1351C>T p.(Arg451Cys). This mutation affects the helical domain (SDHA446-543), altering the highly conserved Arg 451 residue.

The mutation I'm focusing on also affects the helical domain of SDHA, as well as the C-terminal domain (SDHA554-622). While it impacts a slightly smaller portion of the helical domain, which is crucial for the flavoprotein's primary function (FAD binding), it affects multiple subdomains with that C-terminal subdomain as well. I believe that while c.1534C>T (p.Arg512Ter) is a nonsense mutation, it escapes nonsense-mediated decay (NMD) due to its proximity (less than 50bp) to the exon-exon interface (exons 11 to 12), based on the exon junction complex (EJC) model of NMD.

According to my understanding, this mutation should be dominantly pathogenic for the same mitochondrial disease as previously recorded, aptly called isolated mitochondrial CII deficiency, but I'm not an expert, just an undergrad who read some papers, so can anyone provide more insights into this mutation? Is my understanding correct, and could this be tested in silico with models or in vitro with something like an E. coli analog?

I appreciate any thoughts, even if it doesn't cover the whole thing.

Can someone point me in the direction of any studies or resources that show how much archaic DNA existing ancient individuals from like the Bronze Age and such. I thought that would interesting to see.

I just want to know if Is molecular biology a good career? In the big country like UK,USA,CANDA,FRANCE.....

From what I read, it seems they descend primarily from Mesolithic(Western hunter gatherers), Neolithic(Anatolian farmers), and Bronze Age(steppe herder) ancestries. Do they have any input from Gravettians, Solutreans, or Magdalenians also?

I have a question that I think boils down to how the chromosomes and traits get mixed up when the sperm and egg come together. However, I don't remember the specific steps of this from back in High School Biology, but Punnett Squares stuck with me, so I'm going to lay out my question with a Punnett Square.

Let's say Gregor's parents had Aa x AA, and Gregor inherited AA. Gregor's partner, Gregorina is the same, inheriting AA from a Heterozygous x Homozygous pairing.
Is there any chance that Gregor and Gregorina's child inherits the Aa from a grandparent, or is that effectively gone?

PS. My Biology class never went too in depth with Alleles, but out of curiosity, does the answer to the above question change if we're talking about an Allele?

What does it mean if a structural variant is called as homozygous versus being called as heterozygous? Does this refer to the variant being either on one strand of the chromosome versus on both strands? Or something else?

My question is a bit long, but I'd really appreciate it if someone knowledgeable could take the time to read and respond, as I am not sure if I am missing something, or if this question posed by my professor is indeed pretty ridiculous.

Firstly, this is the Pedigree chart provided:

https://preview.redd.it/oz6567zuv2cd1.png?width=843&format=png&auto=webp&s=3369f3a1935eb0f4a5c7a6f4170c8c96d2671a20

Below is the question about this pedigree:

"A mutation of the BRCA1 gene was found in the index case (proband) of this family.

Indicate the relatives in whom it is appropriate to conduct genetic testing because they are at a risk equal to or greater than 50% of being a carrier of the mutation.

Please number the generations from top to bottom (I, II, III, IV, V), and from Left to Right (1,2,3,4...). For example, the index case is IV, 2."

Brief information about me: I have just started learning about pedigree charts (today), so I am unsure if I am missing something, or this question is quite non-sensical and/or the pedigree is inappropriate for the given question, I will further explain as to why I (may) think so below.

My understanding:

BRCA1 mutations are inherited in an Autosomal Dominant pattern, therefore:

1. If an individual is a carrier = should also mean he is affected (or to be affected in the future).
2. If an individual is not a carrier = should also mean he is unaffected.

Therefore, if I understand correctly, pedigree charts depicting diseases with autosomal dominant inheritance should only present with either:

1. Filled shapes (Square/Circle) = Should indicate individuals that are both affected and carriers
2. Empty shapes (Square/Circle) = Should indicate individuals that are both unaffected and non-carriers.

Question:

If my understanding is indeed correct, when we combine the pedigree chart itself with the premise of the question, isn't it non-sensical?

That is:

1. Filled shapes = affected = confirmed with genetic testing / do not need genetic testing.
2. Empty shapes = unaffected = do not need genetic testing.

Unless Empty shapes can have an additional meaning in this case, such as we do not know their actual status (affected or unaffected). But then again, if that's the case, why would the shapes be either filled or empty?

Would really appreciate any clarification regarding this matter, and thanks in advance.

CVS FOR GENETIC CONDITIONS

1.   What is the accuracy of CVS and would it be effective for testing for any genetic condition?

2.   Would this process require karyotyping so they know where fault in parent who is a carrier or how do they test?