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Document Type |
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Project |
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Document Title |
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Identify the common mutations of the CFTR gene using a technique Multiplex - PCR for early diagnosis of patients Cyastis Fibrosis in Saudi Arabia التعرف على الطفرات الشائعة للجين CFTR باستخدام تقنية Multiplex - PCR للتشخيص المبكر لمرضى Cyastis Fibrosis في المملكة العربية السعودية |
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Document Language |
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Arabic |
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Abstract |
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The disease Alscetk Fabrosiz Cystic Fibrosis is a disease of recessive inheritance is more dangerous in the Western world. Since the discovery of first case of this disease in the Kingdom of Saudi Arabia in 1989, the number of clinically diagnosed cases continues to increase, the reason for this may be due to increased awareness of doctors about the symptoms of the disease. Laboratory analysis only available in Saudi Arabia is adopted to detect the proportion of salt chloride in sweat, as a result of the varying and multiple symptoms of the disease, it has not taken diagnosed after cases only late, when advancing the situation and then can not the doctors do a lot to help their patients. For this reason, there is an urgent need to search for ways to diagnose these cases early, using modern methods of detection of genetic mutations that cause the disease and then classified according to seriousness and to help doctors to use the most appropriate treatment early.
The disease Alscetk Fabrosiz is essentially a genetic disease that causes his back to the main mutations of the gene located on chromosome 7, known as PAL (CFTR). And may appear as a result of disease type and one of more than 800 species of genetic mutations that have been described so far that more than two thirds of cases are due to mutations in the F508. The team worked for Applied Biusstm (Applied Biosystem) invented the laboratory analysis, known as PCR-OLA Assay, which detects the most important mutations are the most prevalent and that by the use of 15 pairs of Article acid prepared in advance and which carry genetic mutations and combine with the parts corresponding to the DNA of the patient and can isolate the part, and purified and then read by the scanner Djinie company ABI. This analysis is now the most commonly used laboratory in major centers of genetic analysis in the world.
It is in the past year has been held seven meetings with the teams clinical in each of the King Abdulaziz University Hospital, and Women's Hospital in Jeddah, as well as King Faisal Specialist Hospital and Research Center in Jeddah, from which was obtained DNA samples from ten cases of a disease Alscetk Fabrosiz (diagnosed clinically and using the analysis of chloride), as well as for their parents who are on some of the first degree. During the last four months was conducted several tests for the analysis of the PCR-OLA to improve its performance and, more recently used to detect genetic mutations in the samples collected, where results showed that 4 of 10 cases (40%) carriers of a genetic mutation. Two of the cases carrying the mutation del508-type and the other two carriers of a boom-type frameshift 1078 mutation in the Exxon 7 and the boom of the type splice mutation 3849 +4 A in intron 19. The remaining cases did not show the mutations so far.
It is important to note that this analysis like any other type of analysis has its limits and the next step is to end the procedure to detect genetic mutations in the relatives of these patients by PCR-OLA. After that all samples will be analyzed again to detect "hot spots" that are likely existence of other mutations, and will be using the device ABITM 310 sequencer. The collection of more samples will be during the second phase of this project, which has now gained considerable attention in the medical community. |
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Publishing Year |
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1425 AH
2005 AD |
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Added Date |
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Wednesday, April 30, 2008 |
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Researchers
| عديل جلزار شودري | chaudhary, adeel gulzar | Investigator | Doctorate | |
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