MUTATIONS OF CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR GENE IN PATIENTS WITH MAYER ROKITANSKY KUSTER HAUSER SYNDROME

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ASADI F.; HASHEMIAN NAEINI E.S.

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Paper Information

Journal: Journal of Gorgan University of Medical Sciences Year:2014 | Volume:16 | Issue:2 (50) Page(s): 121-125

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Information Journal Paper

Title

MUTATIONS OF CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR GENE IN PATIENTS WITH MAYER ROKITANSKY KUSTER HAUSER SYNDROME

Author(s)

ASADI F. | HASHEMIAN NAEINI E.S. | Issue Writer Certificate

Keywords

MRKH SYNDROMEQ2

CFTR GENEQ2

DF508 GENEQ3

ARMS-PCRQ2

Abstract

Background and Objective: Mayer Rokitansky Kuster Hauser (MRKH) syndrome is characterized by Mullerian duct aplasia in an XX individual with female phenotype presenting primary amenorrhea at adolescence. This study was done to determine the mutations of cystic fibrosis transmembrane conductance regulator (CFTR) gene including DF508, G542X, N1303K, W1282X in patients with MRKH SYNDROME.Methods: This case-control study was performed on 25 females with MRKH SYNDROME and 25 healthy females. Blood sample was taken from each subject. DNA genomic was isolated by standard methods and common mutations of CFTR GENE analyzed by ARMS-PCR.Results: DF508 GENE was found in 3 in case and one individual in control group. G542X, N1303K and W1282X gene was not detected.Conclusion: DF508 GENE was found in 12% of patients with MRKH SYNDROME.

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APA: Copy

ASADI, F., & HASHEMIAN NAEINI, E.S.. (2014). MUTATIONS OF CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR GENE IN PATIENTS WITH MAYER ROKITANSKY KUSTER HAUSER SYNDROME. JOURNAL OF GORGAN UNIVERSITY OF MEDICAL SCIENCES, 16(2 (50)), 121-125. SID. https://sid.ir/paper/79277/en

Vancouver: Copy

ASADI F., HASHEMIAN NAEINI E.S.. MUTATIONS OF CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR GENE IN PATIENTS WITH MAYER ROKITANSKY KUSTER HAUSER SYNDROME. JOURNAL OF GORGAN UNIVERSITY OF MEDICAL SCIENCES[Internet]. 2014;16(2 (50)):121-125. Available from: https://sid.ir/paper/79277/en

IEEE: Copy

F. ASADI, and E.S. HASHEMIAN NAEINI, “MUTATIONS OF CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR GENE IN PATIENTS WITH MAYER ROKITANSKY KUSTER HAUSER SYNDROME,” JOURNAL OF GORGAN UNIVERSITY OF MEDICAL SCIENCES, vol. 16, no. 2 (50), pp. 121–125, 2014, [Online]. Available: https://sid.ir/paper/79277/en

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