نوع مقاله : مقاله های پژوهشی
نویسندگان
1 کارشناس ارشد، گروه علوم تجربی، واحد دزفول، دانشگاه آزاد اسلامی، دزفول، ایران
2 استادیار، گروه علوم تجربی، واحد دزفول، دانشگاه آزاد اسلامی، دزفول، ایران
چکیده
تازه های تحقیق
آتوسا مرادزادگان: Google Scholar, PubMed
کلیدواژهها
موضوعات
عنوان مقاله [English]
نویسندگان [English]
Background: Charcot-Marie-Tooth disease is a group of genetically heterogeneous inherited disorders characterized by progressive sensory-motor or motor neuropathy, which often leading to leg abnormalities. The purpose of this study is to identify possible genes and mutations involved in bone genetic disorders, as well as to find new mutations that cause this disease, which can be used as background information and help to develop panels designed to diagnose this disorder.
Methods: After collecting the peripheral blood of the patients and other participants in the study, the DNA material was purified by the salting out method and sequenced with the Illumina 100X device. The standard Sanger method was used to confirm the variant.
Findings: IIn this study, two families from Khuzestan province were investigated. In the patient of the first family, NM_002180: exon3: c.449+1G>T mutation was detected, which was homozygous in the patient and heterozygous in his parents. This variant has been reported before, but it is a scarce variant that is not routinely checked. The mutation NM_002180: exon5: c.548A>C was detected in the second family.
Conclusion: By conducting more studies on a large number of families, it is possible to understand the frequency and type of mutations of genes involved in Charcot-Marie-Tooth disease in Iran and then consider the design of a special panel for this disease, which is a great help in diagnosing and preventing the disease. It will prevent the occurrence of new cases in families and improve the health of society.
کلیدواژهها [English]