Questions tagged [human-genetics]
The scientific study of inheritance as it occurs specifically in human beings.
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What is the most accurate polygenic score for Alzheimer’s disease?
To date, which polygenic score (i.e. which study) has produced the largest effect size for Alzheimer’s prediction in out-of-sample validation?
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What does the term 'trait' really mean?
A trait is a characteristic shown by an organism.
For example a Tt plant would show the 'tallness' trait.
In same way sickle cell anemia carriers should show a 'normal' trait, but I found on various ...
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Searching for reference regarding the impact of famine on a woman's grandchildren
I was once told that if a woman experiences a famine, her grandchildren will show epigenetic changes because the egg that the intervening mother came from also experienced the famine.
In other words, ...
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Can someone with albinism have red hair with very pale skin and blue eyes?
I have heard of a type of albinism that occurs in races with darker skin that can give people red hair, but in the pictures I've seen, they usually have reddish-brown hair, a medium skin tone, and ...
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Do endogenous retroviruses (ERV) have a high degree of heterogeneity among people?
Endogenous retroviruses (ERV) make up 5~8% of human genome. These ERV are ancient retroviruses which infected germ cells and therefore became parts of our genomes. However, unless the ERV can increase ...
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How does positional memory in fibroblast cells work?
I have a question regarding how positional memory in fibroblasts work, specifically, where the memory comes from/how its made.
For example, the Salamander & other amphibians are able to regenerate ...
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Overlapping annotated regions among repetitive families of human genome
I am studying the repetitive elements in the human genome and I have come to know that some genomic locations are not uniquely described by a single repeat family. What's behind this uncertainty? Does ...
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How pitch of a DNA Helix is 3.4 nm?
How pitch of a DNA Helix is 3.4 nm?
In the image that I have attached, the numbers with prime represent the number of base pair and normal numbers represent the number of gap elements between two base ...
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Is heritability just slope?
Is broad-sense heritability just the slope of the line that passes through the coordinates:
(1, The phenotypic correlation among monozygotic twins)
(0.5, The phenotypic correlation among dizygotic ...
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Why do protanopes see yellow and not green?
Why can protanopes see yellow but not green when the relative absorbance of these two colour waves by the m cone can be identical?
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Identification of cells containing the gene of interest at a double strand break instead of undergoing recombination
If I tried to knock in a gene for example KANMX and want to swap it with say some gene "x", but, since, there can be double strand break in the DNA and KANMX may get inserted within the ds ...
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What is the sequence similarity between humans and chimps in the noncoding genome?
I've seen some papers discuss extensively how human and chimp genomes compare in many of their features, eg Suntsova & Buzdin 2020, but I have not been able to find a paper that specifically ...
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What colour skin would the child of someone with albinism have?
My question is assuming the baby doesn't have albinism. If the mother has albinism and her family all has dark skin and the father doesn't have albinism and has light skin, would the baby just get the ...
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When is the sex of a human not determined by their chromosomes?
This might sound like a silly question, but what chromosomes determine whether a human is born a boy or a girl? I ask this because I got https://embryo.asu.edu/pages/sex-determination-humans when ...
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What motivates an organism to reproduce? [closed]
What is the biological factor (gene or something else in case of humans) which motivates an organism to reproduce?
By reproducing the evolutionary success of an organism increases. But why would an ...
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What is my original skin tone i.e. my genetic skin tone with minimal/ subtle sun tan?
When I was younger (about 2-3 year old) I had a lighter skin color and now I have a darker skin color ( currently 19 years old ). Now as a teen I have became conscious about my skin issues ( including ...
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Can gene mutations cause Down's syndrome in humans?
I am working on an A levels questions:
Which of the following statements about gene mutation is incorrect?
A. It can occur in both somatic and sex cells
B. It can cause Down's syndrome in humans
C. ...
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Correlation between polygenic scores and reproductive success
I was looking through this article in the journal Behavior Genetics. The researchers has investigated 400 000 people in the UK Biobank and calculated polygenic scores for 33 traits. Then they ...
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What is the heredity model of the following heredity tree?
I have the following heredity tree:
and I need to decide which heredity model it fits the most, with the least number of assumptions, from the following models:
autosome dominant
autosome recessive
...
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Are all genes capable of being switched on or off?
Are all genes capable of being switched on or off or only some genes? Are there some genes that permanently do not have the functionality that enables them to be switched on or off?
Everything I have ...
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How I can find the list of transcription factor proteins involved in transcription of a specific gene?
I want to get the list of transcription factor proteins involved in the transcription of the human SIRT1 gene. How can I access that?
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How do genetic variants of a gene moderate an association, leading to counterintuitive result?
I have run moderation analysis to study the interaction between SNP (dominant model) of a gene (A) with DNA methylation on cognition measures. For this, I have calculated the mean DNA methylation ...
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How can you diagnose albinism in a naturally light-colored person? [closed]
Not all albinos have white hair. There is a type of albinism where the affected person has light yellow hair and the skin color can be the same as a normal North European person.
How can you diagnose ...
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Do the quantum mechanical properties of the particles that make up DNA affect mutations in the genome?
Do quantum mechanical properties of particles, such as uncertainty, probability, tunneling, and so on, affect mutations in the genome?
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How can I find/simulate mixed-ancestry DNA data?
Some collaborators and I are building an ancestral inference tool, and we're having trouble obtaining reliable ground-truth data for samples of mixed ancestry. All the ground-truth DNA datasets we're ...
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Nondisjunction of chromosomes
Why is it that nondisjunction of chromosomes usually happen in the egg, followed by in the sperm, followed by in the embryo? Why isn’t there also a chance that it occur in any cell cycle at any point?
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Question about manifestation of an X linked disease (homework help)
I am doing some practice exams and came across this question. Perhaps the answer is a lot simpler than my reasoning, but after discussing it with others, I still disagree why the answer is clearly and ...
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Skin tone of a new born just after birth
I have a question. My skin tone is light but the photographs of me as a baby show that when i was just born, i was having an even lighter skin colour for about two years or probably more. As for now ...
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Is there an established algorithm to produce a hash number from a person’s DNA?
It is often said that a person’s DNA uniquely identifies that person. Is there an established algorithm that can/could take values of a specific DNA sample to produce a digit string unique to its ...
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Does Telomere length shortening with age actually cause our cells to age and stop functioning properly?
The human telomere, a simple repeating sequence of six bases, TTAGGG located at the ends of chromosomes (Moyzis et al, 1988) protect them from degeneration, reconstruction, fusion, and loss. It is ...
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Phenotype of a possible gene mutation
I have noticed multiple cases where patients had similar body characteristics :
decreased ability to gain weight (slim)
they are capable of sleep only 6 hours or less with normal functioning (...
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Using the law of independent assortment, why can't heterozygous parents make identical twins?
In a case where two parents are heterozygous, why can't any pairs of their children be identical twins? As the question asks, I tried to explain this using the law of independent assortment, which ...
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What is the latest consensus on the causes of sexuality?
In 2019, scientists concluded that there is no gay gene. Epigentic markers of homosexuality have been disproven. The Exotic becomes Erotic Theory is an ancient decrepit idea that holds no water. Yet, ...
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What is the probability for an offspring to inherit schizophrenia? [closed]
If an European male (i.e. white) is diagnosed with schizophrenia, but an European female (also white) 2-3 years younger than the male is healthy, what is the probability that their first child will:
a)...
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The village of Twins — Mystery behind and Scope
With the presence of more than 200 twins, Kodinhi , a village situated in Malappuram District in Kerala , India , is popularly known as the "Village of Twins".This phenomenon of large ...
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Method of determining base values of traits in isolated populations
Prelude: I came across a discussion about the correct formula for calculating the average IQ of offspring, which goes something like the following
$$ 100 + \frac35 \left( \left(\text{father's IQ} + \...
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What determines whether a trait brought out through sexual selection is transmitted only to offspring of the same sex or of both sexes?
First of all, let me apologize for my amateurishness. I have no background in biology. Please bear with me.
My question relates to sexual selection, or specifically its most prominent manifestations:
...
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Can the effect of an allele on height be context-dependent?
Some data is available on the effect alleles have on height. For example Common DNA Variants Accurately Rank an Individual of Extreme Height
However after browsing the literature I was not able to ...
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Why do humans share over 99% of their genomes?
From Wikipedia
The haploid human genome (23 chromosomes) is about 3 billion base pairs long and contains around 30,000 genes.[33] Since every base pair can be coded by 2 bits, this is about 750 ...
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Is it possible to fuse DNA from two sperms and can a baby be born from that? [closed]
If this is possible, then isn't there going to be a chance to have a YY child?
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How many MAOA alleles are there?
The question is about the human gene MAOA.
I've seen MAOA-H and MAOA-L mentioned in papers.
The page https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000189221;r=X:43654907-43746824 ...
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How can you identify recessive mutations in a gene that has been disrupted by a chromosomal translocation?
I am reading a journal paper about a patient who has intellectual disability. The patient was found to have a balanced chromosomal translocation t(11;16)(q24.2;q24).
This chromosomal translocation ...
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Are there any phenotypically visible examples of gene linkage in humans?
Are there any examples of two "visible" or "obvious" phenotypic traits in humans that are a priori unrelated, but which tend to be inherited together (i.e. their inheritance ...
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How often are diseases caused by more than a single mutation of a gene?
Many genetic diseases are caused by mutations in a gene and often, it is a single nucleotide polymorphism (SNP) that has dramatic consequences (e.g. the E6V hemoglobin mutation in sickle cell disease)....
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Difference between heritability on the scale of liability versus the scale of observation
I was reading a paper on disease heritability ("Estimating Missing Heritability for Disease from Genome-wide Association Studies") and it struck me that I don't have a great understanding of ...
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Why do chromosome pairs have different shapes and sizes?
When I look at microscopic images of human chromosome pairs I see that they have different shapes and sizes.
Is there a deeper biological reason for that? Is there some evolutionary pressure for them ...
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Are there any congenital anomalies that cause a lack of epicanthic folds in a child who would normally have them?
Wikipedia lists several medical conditions associated with epicanthic folds. Mount Sinai says that epicanthic folds in a baby who would not be expected to have them is a diagnostic tool that indicates ...
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From an evolutionary standpoint, why don’t couples attempt to have as many kids as possible?
Many couples have 4 or 5 kids, but it is unusual for a couple to have 10 or 15. Shouldn’t humans have evolved to want as many kids as possible to maximize the chances that their genes are passed down?
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Is there any way siblings could be related more than 3/4th siblings, but less than full siblings?
I couldn’t find anything on Wikipedia. 3/4th siblings are 37.5% related while full siblings are 50% related. Is there anything in between?
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Can one mouse gene have multiple human orthologs?
I was trying to map a mouse gene: Arfgap1 to it's human ortholog. Uniprot shows there are two human orthologs of this gene:
https://www.uniprot.org/uniprot/?query=yourlist:...
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