A STUDY ON MUTATIONS IN HOTSPOT SITES OF EXON 15 OF APC GENE IN FAMILIAL ADENOMATOUS POLYPOSIS PATIENTS AND THEIR RELATIVES IN IRAN KHUZESTAN PROVINCE

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MASJEDIZADEH A.A.R.; FOROUGHMAND A.M.; GALEHDARI HAMID; RANJI N.

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Journal: Jundishapur Scientific Medical Journal Year:2009 | Volume:8 | Issue:1 (60) Page(s): 70-78

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Title

A STUDY ON MUTATIONS IN HOTSPOT SITES OF EXON 15 OF APC GENE IN FAMILIAL ADENOMATOUS POLYPOSIS PATIENTS AND THEIR RELATIVES IN IRAN KHUZESTAN PROVINCE

Author(s)

MASJEDIZADEH A.A.R. | FOROUGHMAND A.M. | GALEHDARI HAMID | RANJI N. | Issue Writer Certificate

Keywords

APC GENEQ2

SSCPQ2

Abstract

Objective: The aim of this study was to estimate mutation frequency in exon 15 of APC GENE in Khuzestan FAP patients and their relatives.Subjects and Methods: We have analyzed 12 patients and 11 individual among their relatives. DNA extraction from EDTA treated whole blood was performed by routine salting out method. Three hotspot regions of axon 15 from APC GENE were amplified separately with three primer pairs by PCR and the fragments have been analyzed for putative mutations by single stranded conformation polymorphism (SSCP) according to standard protocols and subsequent sequencing.Results: we found aberrant bands by SSCP method in seven patients and two related members, that compared with data from sequence analysis yield following results: five patients (24 to 35 years old) carried novel frame shift mutation (3195-3196 insT) leading to premature protein. In two patients whose SSCP were positive, no mutations in their two relatives were identified.Conclusion: In this report we have used SSCP as pre-screening method for mutation analysis of our samples and found putative mutations in nine of them. After sequencing, only in five samples "true mutation" could be confirmed it is interesting that approximately 50% of Khuzestan FAP patients carry mutation in axon 15 of APC GENE. Noteworthy, in this work only a small region of the APC GENE was subject of the investigation and interestingly, all patients showed the same new mutation. Studies with large number of samples can help us to know, whether this new mutation is predominant or even exclusive within Khuzestan FAP patients.

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APA: Copy

MASJEDIZADEH, A.A.R., FOROUGHMAND, A.M., GALEHDARI, HAMID, & RANJI, N.. (2009). A STUDY ON MUTATIONS IN HOTSPOT SITES OF EXON 15 OF APC GENE IN FAMILIAL ADENOMATOUS POLYPOSIS PATIENTS AND THEIR RELATIVES IN IRAN KHUZESTAN PROVINCE. JUNDISHAPUR SCIENTIFIC MEDICAL JOURNAL, 8(1 (60)), 70-78. SID. https://sid.ir/paper/12309/en

Vancouver: Copy

MASJEDIZADEH A.A.R., FOROUGHMAND A.M., GALEHDARI HAMID, RANJI N.. A STUDY ON MUTATIONS IN HOTSPOT SITES OF EXON 15 OF APC GENE IN FAMILIAL ADENOMATOUS POLYPOSIS PATIENTS AND THEIR RELATIVES IN IRAN KHUZESTAN PROVINCE. JUNDISHAPUR SCIENTIFIC MEDICAL JOURNAL[Internet]. 2009;8(1 (60)):70-78. Available from: https://sid.ir/paper/12309/en

IEEE: Copy

A.A.R. MASJEDIZADEH, A.M. FOROUGHMAND, HAMID GALEHDARI, and N. RANJI, “A STUDY ON MUTATIONS IN HOTSPOT SITES OF EXON 15 OF APC GENE IN FAMILIAL ADENOMATOUS POLYPOSIS PATIENTS AND THEIR RELATIVES IN IRAN KHUZESTAN PROVINCE,” JUNDISHAPUR SCIENTIFIC MEDICAL JOURNAL, vol. 8, no. 1 (60), pp. 70–78, 2009, [Online]. Available: https://sid.ir/paper/12309/en

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