SETTING UP MULTIPLEX PANELS FOR GENETIC TESTING OF FAMILIAL HYPERTROPHIC CARDIOMYOPATHY BASED ON LINKAGE ANALYSIS

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SAGHAFI HOORIEH; HAGHJOO MAJID; SABBAGH SIMA; SAMIEE NILOOFAR; VAKILIAN FARVEH; SALEHI OMRAN MOHAMMAD TAGHI; DADASHI MASOOMEH; AMIN AHMAD; KERAMATIPOUR MOHAMMAD

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Journal: Iranian Journal of Public Health Year:2016 | Volume:45 | Issue:3 Page(s): 329-339

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Title

SETTING UP MULTIPLEX PANELS FOR GENETIC TESTING OF FAMILIAL HYPERTROPHIC CARDIOMYOPATHY BASED ON LINKAGE ANALYSIS

Author(s)

Keywords

CARDIOMYOPATHY

HYPERTROPHIC

GENETIC LINKAGE

DIAGNOSIS

Abstract

Background: Familial HYPERTROPHIC CARDIOMYOPATHY (HCM) is caused by mutations in genes encoding cardiac sarco-mere 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 link-age 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.

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APA: Copy

SAGHAFI, HOORIEH, HAGHJOO, MAJID, SABBAGH, SIMA, SAMIEE, NILOOFAR, VAKILIAN, FARVEH, SALEHI OMRAN, MOHAMMAD TAGHI, DADASHI, MASOOMEH, AMIN, AHMAD, & KERAMATIPOUR, MOHAMMAD. (2016). SETTING UP MULTIPLEX PANELS FOR GENETIC TESTING OF FAMILIAL HYPERTROPHIC CARDIOMYOPATHY BASED ON LINKAGE ANALYSIS. IRANIAN JOURNAL OF PUBLIC HEALTH, 45(3), 329-339. SID. https://sid.ir/paper/274020/en

Vancouver: Copy

SAGHAFI HOORIEH, HAGHJOO MAJID, SABBAGH SIMA, SAMIEE NILOOFAR, VAKILIAN FARVEH, SALEHI OMRAN MOHAMMAD TAGHI, DADASHI MASOOMEH, AMIN AHMAD, KERAMATIPOUR MOHAMMAD. SETTING UP MULTIPLEX PANELS FOR GENETIC TESTING OF FAMILIAL HYPERTROPHIC CARDIOMYOPATHY BASED ON LINKAGE ANALYSIS. IRANIAN JOURNAL OF PUBLIC HEALTH[Internet]. 2016;45(3):329-339. Available from: https://sid.ir/paper/274020/en

IEEE: Copy

HOORIEH SAGHAFI, MAJID HAGHJOO, SIMA SABBAGH, NILOOFAR SAMIEE, FARVEH VAKILIAN, MOHAMMAD TAGHI SALEHI OMRAN, MASOOMEH DADASHI, AHMAD AMIN, and MOHAMMAD KERAMATIPOUR, “SETTING UP MULTIPLEX PANELS FOR GENETIC TESTING OF FAMILIAL HYPERTROPHIC CARDIOMYOPATHY BASED ON LINKAGE ANALYSIS,” IRANIAN JOURNAL OF PUBLIC HEALTH, vol. 45, no. 3, pp. 329–339, 2016, [Online]. Available: https://sid.ir/paper/274020/en

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