Copy number in the form

Aug 6th, 2022
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How to copy number in the form

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[Music] to understand concept of cnv lets see a case a child who is showing abnormal development parents took the soil to the hospital and now is under investigation a genetic lab is performed here which is known as PCR microarray test patient DNA is hybridized with control DNA and now it is put into microarray plate scanning is done and then that scan is transferred to the computer and a graph is obtained which is showing peaks and the troughs this image is showing microarray played with three different colors first is yellow color yellow color is produced when patient and control both have same set of gene green color is produced when patient has extra copy of gene this is due to gain of the genes and red color is produced when patient has a less number of genes this is due to loss of the genes so Peaks are due to gain entruv are due to the loss okay green color is due to gain and red color is due to loss of the genes Discos genetic test is known as chromosomal microarray test this

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CNVs can also encompass the repeating of whole genes within a genome. One example is the CYP2D6 gene, which codes for the cytochrome P450 in humans. P450 is an enzyme important in breaking down substances not produced by the body, including medications.
: a numeral placed on a book to distinguish it from other copies of the same title.
The major difference between SVs and CNVs is that SVs always involve breakage and rejoining of DNA fragments. Hence, events like whole chromosomal gains and losses are not considered as SVs.
Copy number variation is defined as the presence of variable numbers of copies of a particular DNA segment relative to a reference genome. Deletions and duplications result in copy number changes.
To determine copy number, a relative quantitation analysis is performed between the unknown sample and a calibrator sample (one in which the copy number of the target gene is known). The sample is combined with both assays, master mix, and then run in quadruplicate in the real-time PCR instrument.
Copy number variation (CNV) is a general term used to describe a molecular phenomenon in which sequences of the genome are repeated, and the number of repeats varies between individuals of the same species.
One of the most well-known examples of a disease-causing CNV is Huntington disease, which is caused by a repeating sequence of three base pairs (known as a trinucleotide repeat) at the end of the coding region of the HTT gene.

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