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Questions tagged [human-genetics]

The scientific study of inheritance as it occurs specifically in human beings.

59 questions with no upvoted or accepted answers
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6
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73 views

Examples of environmentally influenced gene-expression in humans?

In discussions of the relevant importance of genetic and environmental influences on the development of the individual, it's often stated that the genetic and environmental influences interact. An ...
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118 views

Y Chromosome in Ovary Cancer Data

I have been analyzing TCGA Ovary Cancer data. In Somatic Mutation data, there is data of mutations in all the chromosomes (1-22 and X), but amazingly, I have found one (just one) row of Y Chromosome ...
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Inheritance percentiles

I am aware that the average DNA contribution from each grandparent is 25%, while the possible range is 0%-50%. I found a source citing 18%-32% as the "normal" range but this was undefined. I assume ...
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101 views

How does the new discovery that mitochondrial dna is inherited from both parents change population genetics and other dates?

This new study seem to have pretty much proven that mtDNA is inherited from both parents. I assume that this would lead to most age estimates of ancient human ...
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158 views

Is there evidence for higher human genetic diversity prior to the alleged Toba Catastrophe genetic bottleneck?

I've been reading on the Toba Catastrophe theory and that it supposedly caused a genetic bottleneck in humans some 70k years ago, which raised a question that I couldn't find an answer to by searching ...
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82 views

Mechanism behind Philadelphia chromosome translocation?

I was reading up on causative factors of leukemia on medicinenet and I came across the following statement: ...an exchange between chromosomes 9 and 22 leads to what is known as the Philadelphia ...
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120 views

What would the resulting karyotype be if someone with Klinefelter syndrome fertilized an “empty” egg?

Endoreduplication: is a form of nuclear polyploidization that results in multiple, uniform copies of chromosomes. This process is common in plants and animals, especially in tissues with high ...
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Relationship between inbreeding and sterility in humans

In general, inbred individuals tend to be at increased risk of sterility as shown in cows (Gonzales-Recio, 2007) or in leghorns (Nordskog and Cheng, 1988) for examples. I only have very quickly looked ...
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Is Phenylalanine hydroxylase gene biallelic?

Since the PAH gene is biallelic, and there are many disease causing mutations, most PKU patients are compound heterozygotes. (paper) Compound heterozygosity in medical genetics is the condition ...
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1k views

Are epicanthic folds a dominant trait?

My state (Tripura) originally had a mostly mongoloid-feature-possessing population (ethnic group: Tripuri). Recently a large number of non-mongoloid people (ethnic group: Bengali) have migrated to ...
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314 views

Runs of homozygosity - degree of inbreeding and disease associations

Been reading recently about methods to determine how inbred a particular person is by measuring their "runs of homozygosity." Loosly, these are defined as regions of the genome (typically >1Mb) where ...
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38 views

What the “due to” means in the definition of heritability?

According to Wray and Visscher, heritability is formally defined as the proportion of phenotypic variation (VP) that is due to variation in genetic values (VG). My question is, what does “due to” ...
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96 views

what is the difference between homozygous and heterozygous duplication?

In a genetic test result it's written homozygous duplication or heterozygous duplication Does it mean four copies of the ...
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205 views

True examples of common variation due to Mendelian Inheritance

Classic examples of mendelian inheritance are genetic diseases such as sickle-cell anemia, Tay-Sachs, cystic fibrosis, and xeroderma pigmentosa. For some of these diseases, it is believed that they ...
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48 views

Appropriateness of PCA to visualize clusters in genetic data

In many genetic studies, PCA is often utilized to examine genetic cluster in human populations. Rarely is the % variance reported for the components. With human data it's been my experience that the ...
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45 views

Around what time did dark skin disappear from Europe?

As Europeans gradually became lighter skinned, there would have been people that still had dark skin. Around what time period did Europeans become completely light skinned?
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37 views

Veritasium video about mosquitoes

In the recent veritasium video about mosquitoes , the host says that the researchers used identical female twins and fraternal female twins to understand the effect of genes on attractiveness to ...
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571 views

Can telegony happen in humans like in Telostylinus angusticollis?

Is it possible for a human male to transmit features of his phenotype via non-genetic semen-borne factors to his mate's subsequent offspring sired by another male? As it happens in flies (Crean et al.,...
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How many generations apart can a DNA test for blood relations be valid?

Suppose an American suspects he is a descendant of George Washington and he has a strand of hair of George Washington. Can a DNA test be done to prove that he is indeed a true descendant of the great ...
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61 views

Is a novel homozygous SNV reasonable?

I'm doing some variant discovery in a human trio (affected child, non-affected mother, non-affected father) and I have found what looks like a homozygous novel mutation. All of the aligned reads in ...
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50 views

Open access datasets for QTL analysis?

I'm just getting started out learning how to use the QTL package in R studio, and I'm trying to find additional datasets to practice with. I've already worked through the datasets here on the Rqtl ...
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62 views

Mosquito vs Human: Swapping the roles

Is there a known mosquito-specific lethal (for some relevant species of mosquitos) virus that you could safely (for the humans) put into the blood of living humans? Is it technically possible to ...
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1k views

Is Gorlin's sign hereditary?

"Gorlin's Sign" is the ability to touch the tip of the nose with the tongue. It is present in half of people with Ehlers-Danlos syndrome, but is also present in a minority of people without that ...
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863 views

What´s the role or function of the homologous arms in a donor template in a knockout/knock edition via Crispr-cas9?

I have to make an exposition in my university about Crispr-cas9 edition and I have some questions about the method. In the knock out/knock in technique is used a plasmid containing the DNA that ...
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1k views

What is the probability of an XX female or XY male?

Homework question In genetics the chance of having a male or female is 50% for male and 50% for female. Using factorial method and Punnett Square prove or disprove the claim. My answer Using the ...
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Figure out which is the risk allele from SNP in GWAS article

I do neuroimaging research, and am interested in dabbling in genetics. I am trying to create an anxiety risk profile score from several SNPs shown to correlate with measures of anxiety in past GWAS ...
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52 views

Is it tautological that all living humans descended from a single male and single female human ancestor?

Many popular science articles cite high sequence conservation of mitochondrial DNA and the Y chromosome among living people as evidence that all humans are descended from a single male and single ...
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24 views

What is the distribution of gene polymorphism levels across human genes?

Of the approximately 19,000 human genes, about how many have one allele that occurs with appreciable frequency in the current human population, how many have two alleles, and so on? (By "appreciable ...
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33 views

Measuring genetic distance: $F_{ST}$ vs. Nei's distance

As far as I'm aware, Nei's genetic distance is quite old compared to $F_{ST}$. However, I have recently read more papers that utilized Nei's genetic distance alongside with $F_{ST}$. As I'm not very ...
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48 views

Why are there sporadic lightly pigmented hairs in facial hair?

My body and scalp hair are entirely black. Until recently, I thought this was the case with my facial hair also, until I noticed a small handful of hairs that were anywhere from light brown to copper-...
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30 views

The concept of high genetic load of disease and non-random segregation of deleterious variants

I'm new in this field. I was reading Shakeel et al. (2018) and came across the below sentences The rate of emergence and distribution of deleterious variants in populations is important in ...
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29 views

Did the chromosomal fusion within humans affect phenotypical change compared to the separated chromosomes in the other apes?

I just read this article on the evolutionary divergence between humans and chimps, and how the most significant event was when the 24 number of chromosomes in chimps was reduced to 23 in humans due to ...
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22 views

What is the chemical mechanism by which PcP(c) is converted to PcP(Sc) in Fatal Familial Insomnia

I know the gene PRNP and it's location. There’s a mutation at codon 178 (asparagine found instead of normal aspartic acid) on the prion protein gene (also found in fCJD) and more uniquely there is a ...
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26 views

Understanding the genotype written in terms of two genes

I have some doubt in understanding the following genotypes: HCV-Tg/AID(+/+), HCV-Tg/AID(-/-) and HCV-Tg/AID(+/-), where HCV-Tg stands for "Hepatitis C Virus (HCV) core proteins" and AID for the gene "...
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32 views

Is human genome editing more complicated than mice genome editing?

A lot of genome editing trials are being done on mice and rats, but I often read that the step from mice- to human genome editing is complicated. What are precisely? I guess it has something to do ...
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32 views

On parents' similarity

I don't know if this is a real claim, I live in Mexico City and most of the people I know are more similar to their father than to their mother? Why is that? Are the x and y cromosomes somehow related ...
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121 views

Why is the total length of Introns greater than the total length of exons?

I have just been reading that typically the total length of the Exons of a split gene is very much smaller than to total number of its Introns. Could anyone please explain why this is the case if its ...
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38 views

Method to estimate age of a variant from genotype data

I will obtain array genotype data from approximately 60 related individuals who all share a rare pathogenic variant, which is at such a high frequency in the enlarged family due to a founder effect. ...
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66 views

Robertsonian translocation on the same chromosome

is there any big difference between Robert-son-i-an translocation between two 13 chromosomes comparing to a translocation between 13 and 14 chromosomes
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437 views

How should one interpret heritability? Is it related to $R^2$?

From Wiki: Heritability estimates are often misinterpreted if it is not understood that they refer to the proportion of variation between individuals on a trait that is due to genetic factors. It ...
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99 views

How to find name of the gene

Considering the kegg page, this page contains the description of the gene Edwardsiella tarda EIB202: ETAE_0074 . Now this gene has a name given in the page as : wabG. Now considering another gene 1 ...
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21 views

Serotonin activity with short 5-HTT promotor region and depression

So after reading a few studies (1,2) it seems that a shorter promotor region for the serotonin transport protein may be associated with increased likelihood of developing depression after stressful ...
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46 views

Will someone with a double mutation in the allosomes be normal?

Normally a female human has an X allosome from her father and an X allosome form her mother. What if an double mutation happened, which causes that someone has two X allosomes form her mother and no ...
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56 views

Would it be possible to create a gel, holding viruses, that could alter the human genome when rubbed in?

I was wondering if it could be possible to engineer a virus, that when it comes into contact with human hair follicles, it could alter someones natural hair color. Naturally blue hair anyone? ...
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786 views

Can sealed epiphyseal growth plates theoretically be restored via epigenetic or genetic methods?

I know that epiphyseal growth plates seal up once people become young adults and that it is currently impossible to restore them to actively produce new bone growth but, is it theoretically possible ...
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95 views

Can a heterozygous allele show non-heterozygous expression in a family?

I'm doing a family study looking for novel cancer-associated variants in germ-line samples; the goal is to find candidate biomarkers which might be used for early detection. At an earlier step our ...
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129 views

Plateletpheresis for hemophilia

Plateletpheresis is seperation of platelets from whole blood and putting the leukocytes and erythrocytes back into the blood. If the person donating platelets does not have hemophilia than could a ...
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69 views

Which disorders are fully concordant?

I work in neuroscience, mostly Alzheimer's disease (AD), with some work in autism spectrum disorder (ASD). The work is in gene regulation and epigenomics. I'm familiar with monozygotic twin (MZ) ...
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98 views

DNA fingerprinting

I would like to make my own DNA fingerprint - just for fun to have my "autoportrait":). I was looking around a bit and all the commercial kits you can have are very expensive. Can you suggest me a ...
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1answer
137 views

Is it common to have multiple recessive traits in humans?

I just started thinking about my phenotype and realized I got multiple recessive traits. I have attached ear lobes, my blood type is O-, I got green eyes (I think eye color in polygenic but still ...