این سایت در حال حاضر پشتیبانی نمی شود و امکان دارد داده های نشریات بروز نباشند
Iranian Journal of Public Health، جلد ۴۵، شماره ۳، صفحات ۳۲۹-۳۳۹
عنوان فارسی
چکیده فارسی مقاله
کلیدواژه‌های فارسی مقاله
عنوان انگلیسی Setting up Multiplex Panels for Genetic Testing of Familial Hy¬pertrophic Cardiomyopathy Based on Linkage Analysis
چکیده انگلیسی مقاله Background: Familial hypertrophic cardiomyopathy (HCM) is caused by mutations in genes encoding cardiac sarcomere proteins. Nowadays genetic testing of HCM plays an important role in clinical practice by contributing to the diagnosis, prognosis, and screening of high-risk individuals. The aim of this study was developing a reliable testing strategy for HCM based on linkage analysis and appropriate for Iranian population. Methods: Six panels of four microsatellite markers surrounding MYH7, MYBPC3, TNNT2, TNNI3, TPM1, and MYL2 genes (24 markers in total) were selected for multiplex PCR and fragment length analysis. Characteristics of markers and informativeness of the panels were evaluated in 50 unrelated Iranians. The efficacy of the strategy was verified in a family with HCM. Results: All markers were highly polymorphic. The panels were informative in 96-100% of samples. Multipoint linkage analysis excluded the linkage between the disease and all six genes by obtaining maximum LOD score ≤-2. Conclusion: This study suggests a reliable genetic testing method based on linkage analysis between 6 sarcomere genes and familial HCM. It could be applied for diagnostic, predictive, or screening testing in clinical setting.    
کلیدواژه‌های انگلیسی مقاله
نویسندگان مقاله | Hoorieh SAGHAFI
Dept. of Medical Genetics, Tehran University of Medical Sciences, Tehran, Iran


| Majid HAGHJOO
Rajaie Cardiovascular Medical and Research Center, Tehran University of Medical Sciences, Tehran, Iran


| Sima SABBAGH
Dept. of Medical Genetics, Tehran University of Medical Sciences, Tehran, Iran


| Niloofar SAMIEE
Rajaie Cardiovascular Medical and Research Center, Tehran University of Medical Sciences, Tehran, Iran


| Farve VAKILIAN
Preventive Cardiovascular Care Research Center, Imam Reza Hospital, Mashhad University of Medical Sciences, Mashhad, Iran


| Mohammad TAGHI SALEHI OMRAN
Roohani Hospital, Babol University of Medical Sciences, Bobol, Iran


| Masoomeh DADASHI
Rajaie Cardiovascular Medical and Research Center, Tehran University of Medical Sciences, Tehran, Iran


| Ahmad AMIN
Rajaie Cardiovascular Medical and Research Center, Tehran University of Medical Sciences, Tehran, Iran


| Mohammad KERAMATIPOUR
Dept. of Medical Genetics, Tehran University of Medical Sciences, Tehran, Iran
نشانی اینترنتی http://ijph.tums.ac.ir/index.php/ijph/article/view/6265
فایل مقاله اشکال در دسترسی به فایل - ./files/site1/rds_journals/86/article-86-1354435.pdf
کد مقاله (doi)
زبان مقاله منتشر شده
موضوعات مقاله منتشر شده
نوع مقاله منتشر شده
برگشت به: صفحه اول پایگاه   |   نسخه مرتبط   |   نشریه مرتبط   |   فهرست نشریات