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7

According to the HGVS guidelines, a letter prefix should be used to indicate the reference sequence used. Accepted prefixes are: “g.” for a genomic reference sequence “m.” for a mitochondrial reference sequence “c.” for a coding DNA reference sequence “n.” for a non-coding DNA reference sequence “r.” for an RNA reference sequence (transcript) “p.” for a ...


6

The discovery of genetic sex determination, and determination of sex via male gametes (in XY species, female in ZW), occurred over some time in the late 1800's and early 1900's. Advances were made with methods to stain chromosomes and, in 1891, Henking noted that wasps produced sperm with a varying number of chromosomes. However, he was unable to gather ...


6

It is correct that O- and B+ parents cannot produce biological children with A+ and AB+ blood groups, with the exception of a few rare edge cases. Firstly, as noted in the other answer, your grandmother may have the Bombay phenotype. However, this is unlikely, due to the fact that she has been previously hospitalised and it was not noted. Another ...


3

It requires two genetic constructs to create a conditional KO organism. One parent with a transgene that expresses a DNA recombinase (such as Cre) after the promoter of a gene that is ONLY expressed in your tissue of interest. The other parent contains a modified gene of interest to be removed in the presence of said DNA recombinase but is fully functional ...


3

Assuming true paternity and correct ABO blood type detection, your grandma could likely have a Bombay phenotype (h/h blood group), which would make her blood look like the O type: http://www.ncbi.nlm.nih.gov/books/NBK2268/ This means that she would be double recessive to (and therefore lack) the H antigen, which is a precursor to A and B antigens. She would ...


3

Genetic information is the heritable information used by organisms to guide their self-assembly. It's why traits can persist across generations. DNA is, by far, the primary material used (by life) to encode genetic information, but it's not the only one. RNA is a pretty common alternative to DNA. If we're looking to Wikipedia, this is actually referred to (...


2

Briefly speaking you expect more or less uniform coverage for reads. So if you see a systematic difference in quality scores or coverage for minor and major alleles or for forward and reverse strand, it could be an SNV, but most likely it is a technical issue. That's a 'dubious variant'. A lot of such biases are described in "Genotype and SNP calling from ...


2

A chromosome is simply a length or segment of DNA. Bacteria have few structural proteins on their DNA, and they have one circular chromosome. In humans, before DNA replication, the nucleus contains 46 strands of DNA, i.e. chromosomes (22 chromosomes in two copies and usually two X or one X and one Y for males and females, respectively). All chromosomes are ...


2

You are correct that brachydactyly is a dominantly inherited disorder and is usually caused by mutations in the BMPR1B gene. However, not everyone who has the mutation, will have clubbed thumbs (the phenotype). This is due to a phenomenon known as penetrance and expressivity. Penetrance essentially is an all-or-none phenomenon whereby certain individuals ...


2

Definitely not. There is a ton of variation from gene to gene, otherwise, as you say, regulation wouldn't work. That said, the word "promoter" sometimes gets used in different ways. Especially in eukaryotic systems, people will sometimes say "promoter" to mean the entire region upstream of the gene where transcription factors can bind (for yeast, typically ...


2

You are right but the list is certainly not exhaustive. Here are a few more concepts you may want to consider. Exception of law of dominance: epistasis Allelic effect at a given locus depend on the variants at other loci environment dependence and specific case of frequency dependence The concept of dominance can be used for any quantitative trait. ...


2

What you've circled is not a heteroduplex. A better name for it would be "crossover" or "junction". Instead, the two duplexes at the bottom of your diagram are what should be labeled heteroduplexes. Your diagram shows one process by which you could generate heteroduplexes starting from homoduplexes. Here's a better picture from the NCI Dictionary of ...


2

A large part of the body of your question seems relatively unrelated to the main question which is a little confusing. I will focus on the question Is it possible for there to be a random un-mutation of genes? Yes, these are usually called reversed mutation. It is quite common though that a second mutation at a distinct locus may reverse the phenotypic ...


2

Before I actually answer your question, let us clear up some problems in your assumptions. The fact that you expect 50% similarity in siblings is a full of several assumptions. Imagine a case of a simple diploid organism with 2 traits. To restate your assumption, if both the parents are heterozygous in either of the two traits, and the alleles present in ...


1

Gene editing is not done on a single cell but a bunch of cells. However, it still does not affect all the cells. Gene editing/therapy for the entire organism works in these cases: Stem cells are edited, which give rise to many other somatic cells. Usually done in case of gene therapy in which the stem cells are obtained from the patient, edited and re-...


1

I'm not sure what you mean by "recombination". Peas have 7 chromosomes. Mendel's seven published traits are each on a different chromosome. Mendel's second law states that all genes assort independently. This is wrong, but it is correct for genes located on different chromosomes, which Mendel's were.


1

ID mapping This is called ID mapping. It used to be a headache as programmatic access was the only real way, but it is pretty trivial these days. As mentioned in the comments, by far the most popular and easy method is to use Uniprot's list uploader for mapping. The corresponding publication can be found here. You must convert from Gene name to Uniprot KB ...



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