این سایت در حال حاضر پشتیبانی نمی شود و امکان دارد داده های نشریات بروز نباشند
Medical Laboratory Journal، جلد ۱۴، شماره ۵، صفحات ۱۹-۲۴
عنوان فارسی
چکیده فارسی مقاله
کلیدواژه‌های فارسی مقاله
عنوان انگلیسی Prevalence of Trinucleotide Expansions in SCA17/TBP and JPH3 Genes and Octapeptide Insertion in PRNP Gene in Iranian Patients with Huntington-Disease like Syndrome
چکیده انگلیسی مقاله Background and objective:  Huntington's disease (HD) is an autosomal dominant disorder that mainly affects adults. Although mutations in the IT15 gene have been known as the main cause of the disease, patients with HD like (HDL) syndrome have mutations in genes other than the IT15 gene.  In this study, we investigate the frequency of mutations in SCA17/TBP, JPH3 and PRNP genes in patients with HDL syndrome.         Methods: The frequency of mutations in SCA17/TBP, JPH3 and PRNP genes was studied in 56 patients with HDL phenotype but without trinucleotide expansion in the IT15 gene. DNA was extracted from peripheral whole blood by the salting out method. PCR was performed using specific primers for each gene. PCR products were separated on polyacrylamide gel. Sequencing was performed on some samples to confirm the PCR results.         Results: We found neither trinucleotide expansion in the JPH3 and SCA17, nor octapeptide insertion in the PRNP gene.         Conclusion: Based on the results, Iranian patients with HDL syndrome do not have mutation in the TBP, JPH3 and PRNP genes. However, this result may be due to population differences, rarity of the mutations in the studied genes and the small number of study subjects. Therefore, studies with a larger study population that investigate other mutations, such as point mutations in the mentioned genes may help clarify the exact cause of HDL phenotype in Iranian patients.
کلیدواژه‌های انگلیسی مقاله Huntington&apos,s Disease, HDL, JPH3, PRNP, SCA17
نویسندگان مقاله | mana zakeri
mana Zakeri, Islamic Azad University Tehran medical branch, Department of Biology, Tehran.Iran.


| amir hosein babaei
Babaei A.H, Science and reserch branch, Islamic Azad University, Tehran, Iran.


| mohamad taghi akbari
mohamad taghi Akbari, Tehran medical genetic labratory,Tehran, Iran.


| shohreh zare
shohreh zare karizi,Department of biology varamin pishva branch, Islamic Azad University.


| faravar khordadpoor
faravarh khordad poor deilamani, Tehran medical genetics laboratory, Tehran, Iran.
نشانی اینترنتی http://mlj.goums.ac.ir/browse.php?a_code=A-10-873-1&slc_lang=en&sid=1
فایل مقاله فایلی برای مقاله ذخیره نشده است
کد مقاله (doi)
زبان مقاله منتشر شده en
موضوعات مقاله منتشر شده ژنتیک انسانی
نوع مقاله منتشر شده تحقیقی
برگشت به: صفحه اول پایگاه   |   نسخه مرتبط   |   نشریه مرتبط   |   فهرست نشریات