EXISTENCE OF MUTATIONS IN THE HOMEODOMAIN-ENCODING REGION OF NKX2.5 GENE IN IRANIAN PATIENTS WITH TETRALOGY OF FALLOT

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KHEIROLLAHI MAJID; Khosravi Fereshteh; ASHOURI SAEIDEH; AHMADI ALIREZA

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Journal: JOURNAL OF RESEARCH IN MEDICAL SCIENCES (JRMS) Year:2016 | Volume:21 | Issue:2 Page(s): 0-0

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Title

EXISTENCE OF MUTATIONS IN THE HOMEODOMAIN-ENCODING REGION OF NKX2.5 GENE IN IRANIAN PATIENTS WITH TETRALOGY OF FALLOT

Author(s)

KHEIROLLAHI MAJID | Khosravi Fereshteh | ASHOURI SAEIDEH | AHMADI ALIREZA | Issue Writer Certificate

Keywords

CARDIAC DEFECT

IRANIAN PATIENT

NKX2.5 GENE

TETRALOGY OF FALLOT (TOF)

Abstract

Background: Tetralogy of Fallot (TOF), the most common cyanotic heart defect and one of the most common congenital heart diseases, occurs mostly sporadically and nonsyndromically. The underlying molecular genetic mechanism is not known. Therefore, the existence of mutations in the homeodomain-encoding region of NKX2.5 GENE in IRANIAN PATIENTs with tetralogy of Fallot is evaluated. Materials and Methods: In the present study, we analyzed the peripheral blood samples of27 patients in order to find any mutation in the 180 bp homeodomain-encoding region of NKX2.5 GENE, which is known to be involved in heart development and diseases. DNA was extracted and all the samples were amplified by polymerase chain reaction (PCR) and sequenced.Results: Twenty-seven patients were included in the study. Twenty-five of them were infants and children (6 days to 11 years of age), one was a teenager (14-years of age), and another was a 33-year-old man [mean ± standard deviation (SD): 5.80 ± 3.90 years]. Thirteen patents were males (mean ± SD: 6.587077 ± 5.02 years) and 14 were females (mean ± SD: 5.0726 ± 2.81 years). One synonymous variant, i.e., c.543G>A was identified in one patient.Conclusion: Mutations in the homeodomain-encoding region of NKX2.5 GENE may not have an outstanding role in etiology of tetralogy of Fallot patients in Iran.

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APA: Copy

KHEIROLLAHI, MAJID, Khosravi, Fereshteh, ASHOURI, SAEIDEH, & AHMADI, ALIREZA. (2016). EXISTENCE OF MUTATIONS IN THE HOMEODOMAIN-ENCODING REGION OF NKX2.5 GENE IN IRANIAN PATIENTS WITH TETRALOGY OF FALLOT. JOURNAL OF RESEARCH IN MEDICAL SCIENCES (JRMS), 21(2), 0-0. SID. https://sid.ir/paper/682302/en

Vancouver: Copy

KHEIROLLAHI MAJID, Khosravi Fereshteh, ASHOURI SAEIDEH, AHMADI ALIREZA. EXISTENCE OF MUTATIONS IN THE HOMEODOMAIN-ENCODING REGION OF NKX2.5 GENE IN IRANIAN PATIENTS WITH TETRALOGY OF FALLOT. JOURNAL OF RESEARCH IN MEDICAL SCIENCES (JRMS)[Internet]. 2016;21(2):0-0. Available from: https://sid.ir/paper/682302/en

IEEE: Copy

MAJID KHEIROLLAHI, Fereshteh Khosravi, SAEIDEH ASHOURI, and ALIREZA AHMADI, “EXISTENCE OF MUTATIONS IN THE HOMEODOMAIN-ENCODING REGION OF NKX2.5 GENE IN IRANIAN PATIENTS WITH TETRALOGY OF FALLOT,” JOURNAL OF RESEARCH IN MEDICAL SCIENCES (JRMS), vol. 21, no. 2, pp. 0–0, 2016, [Online]. Available: https://sid.ir/paper/682302/en

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