Questions tagged [human-genetics]

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

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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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Does having a genetic Becker Muscular Distrophy at the same time increase the chance that an Amyotrophic Lateral Sclerosis is also genetic?

It is known that about 10 percent of ALS cases are inherited, whereas it is always the case for Becker Muscular Distrophy. If someone has been diagnosed with both diseases at the same time, but died ...
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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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1 answer
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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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Function of IGLL5 in the immunoglobulin lambda light chain locus

IGLL5 sits in the locus of the lambda light chain genes. GeneCards has this description: This gene encodes one of the immunoglobulin lambda-like polypeptides. It is located within the immunoglobulin ...
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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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Can two of a persons relatives who are unrelated to each other, one through each parent, match on the same chromosome segment?

Regarding the title, I would like to emphasize, assuming no recent endogamy. To be clear, let's say they're distant enough that any endogamy would be expected to be less than 5 continuous ...
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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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What are the additional considerations for primer design in ancient DNA?

I'm familiar with the principles of primer design and have previously designed primers for use in modern DNA. However, in my current project I am working with ancient DNA (nuclear gene) and need to ...
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What's the process for determining whether a GC -> AT conversion in bisulfite sequencing is due to degradation?

I'm working on an ancient DNA project (humans) examining the methylation patterns for a single nuclear gene on chromosome 5. I understand the protocols of bisulfite sequencing, and in general how the ...
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Can chain-linked genetic segment data be used to reliably assign unknown relatives to either the donor's mother or father?

I am analyzing DNA matching segment data, and I am trying to broadly group all DNA matches by my donor's parents. Based on documented evidence, I can confidently identify "Person 'B'" as a ...
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If a small population left one continent and sailed to another, would the genes of the population that left show relation to the original population?

This question has a specific context, a religious one, and so I'm not sure this is the right place to ask, but I can't think of a better place. I would like as objective and unbiased an answer as ...
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Can you calculate the coefficient of inbreeding (F) without a family history?

Apologies in advance, this question may be completely obvious. Say, I didn't have a family tree for two individuals. Could I calculate their coefficient of inbreeding? If not, is there a good proxy ...
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What is the methodogy used to determine the exact genetic flow from one area to another and the times in which it flowed?

For example, I take the instance of Central Asian migration into India. Say geneticists studied a) ancient bones in CA b) ancient bones in India c) living people in Central Asia d) living people in ...
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How many genes per 23 chromosomes in human genome? [closed]

It is estimated that humans have between 20,000 and 25,000 genes. Every person has two copies of each gene, one inherited from each parent. There are 46 chromosomes, half from the mother, half from ...
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What is the probability of having a son with blood type O? [closed]

So I was solving some biology questions, and this question left me confused. The response is supposed to be 22% according to the answers, but all the methods that I used did not lead me to it. I ...
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Is there any data on Neanderthal admixture in Western European Hunter Gatherers?

If there is any data, was the rate of admixture higher than today? Like WEHG brought the component in? Or was the amount maybe lower, like other groups like Early European Farmers or Yamnaya brought ...
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Does mitochondrial eve have to exist?

Suppose we took all living humans and found the set of their mothers, mothers' mothers, etc. and then traced down as far as possible. Is there a logical reason that this tree has to converge to one '...
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7 votes
1 answer
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What is the criterion for genetic similarity among siblings and humans in general?

I just started reading Blueprint by Robert Plomin. He makes some well-known statements about genetic similarity which we all have read somewhere but I would like to know what the criteria for genetic ...
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Why is male balding so common in comparison to female balding?

I have heard that over 30% of men will be bald by 30, and that 60% will be bald by 50. However, I hardly ever see a bald woman unless it is a story about a cancer survivor or someone going through ...
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2 votes
2 answers
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Why is haemophilia unviable in later stages of life?

A sentence in my textbook is: The possibility of female being haemophilic is extremely rare because mother of such a female has to be at least carrier and the father should be haemophilic (unviable ...

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