You have isolated the gene that you think is responsible for the symptoms of the disease from both normal people; and people with the disease. How would you determine if the gene you found is causing the disease?
Hi:
Step 1: Use PCR to make many copies of the gene in question from healthy people and from people with the disease.
Step 2: Determine the base sequence of the gene from healthy people and from people with the disease.
Step 3: Compare the base sequences. If they are the same, then the gene would not be the cause of the disease. If different, then see how they differ and determine if they would code for a protein that would have a different amino acid sequence that might cause the protein to have a nonfunctional shape.
Best regards
Hi:
Step 1: Use PCR to make many copies of the gene in question from healthy people and from people with the disease.
Step 2: Determine the base sequence of the gene from healthy people and from people with the disease.
Step 3: Compare the base sequences. If they are the same, then the gene would not be the cause of the disease. If different, then see how they differ and determine if they would code for a protein that would have a different amino acid sequence that might cause the protein to have a nonfunctional shape.
Best regards
Thank you "Alaa Hani Al-Charrakh", for your interesting and comprehensive answer.
Eur J Hum Genet. 2012 May;20(5):490-7. doi: 10.1038/ejhg.2011.258. Epub 2012 Jan 18.
Disease gene identification strategies for exome sequencing.
Gilissen C1, Hoischen A, Brunner HG, Veltman JA.
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Abstract
Next generation sequencing can be used to search for Mendelian disease genes in an unbiased manner by sequencing the entire protein-coding sequence, known as the exome, or even the entire human genome. Identifying the pathogenic mutation amongst thousands to millions of genomic variants is a major challenge, and novel variant prioritization strategies are required. The choice of these strategies depends on the availability of well-phenotyped patients and family members, the mode of inheritance, the severity of the disease and its population frequency. In this review, we discuss the current strategies for Mendelian disease gene identification by exome resequencing. We conclude that exome strategies are successful and identify new Mendelian disease genes in approximately 60% of the projects. Improvements in bioinformatics as well as in sequencing technology will likely increase the success rate even further. Exome sequencing is likely to become the most commonly used tool for Mendelian disease gene identification for the coming years.
PMID: 22258526 PMCID: PMC3330229 DOI: 10.1038/ejhg.2011.258
Using genetic techniques like PCR, Gene sequences, and gene phylogeny.
Using Polymerase chain reaction of a target gene extracted from the bacteria tested.
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