APPLICATION OF MICROSATELLITES IN GENETICALLY ANALYSIS OF AFFECTED FAMILIES WITH WILSON'S DISEASE FROM EAST AND WEST AZARBAIJAN

Q: How can I download an article?

To download an article from SID, first log in to the site, search for the article title, and click on the 'Download Article' option.

Q: How can I download an ISI article?

To download an ISI article on SID, enter the keyword or article title in the search bar, view the relevant results, click on the desired article, and select the 'Download Article' option.

Q: How can I access the SID database?

To access the SID database, visit SID.ir, create an account, and log in to access scientific resources.

Q: Is downloading articles from SID free?

Some articles on SID are available for free, while others require payment. Details are specified on the article's page.

AZIMI NEGIN; JABARPOUR BONYADI MORTEZA; SOUMI M.H.; RAFIEI MANDANA; SARAMI F.; MOHAMMADIAN R.; FARHOUDI MAHDI; BARZEGAR M.

مرکز اطلاعات علمی Scientific Information Database (SID) - Trusted Source for Research and Academic Resources

Journal Paper

Paper Information

Journal: Studies in Medical Sciences Year:2007 | Volume:18 | Issue:2 Page(s): 461-468

Download Full-Text

Persian Verion

View:

1,310

Download:

Cites:

Information Journal Paper

Title

APPLICATION OF MICROSATELLITES IN GENETICALLY ANALYSIS OF AFFECTED FAMILIES WITH WILSON'S DISEASE FROM EAST AND WEST AZARBAIJAN

Author(s)

Keywords

MICROSATELLITESQ3

ATP7BQ3

WILSON DISEASEQ4

POLYMORPHISMQ3

Abstract

Introduction: WILSON DISEASE (WD) is one of the rare disorders affecting most of the organs. The WD gene located on chromosome 13, encodes for a copper-transporting P-type ATPase (ATP7B).Diagnosis of WD is based on low copper serum levels, high urinary copper elimination, and genetic analysis of families. The aim of this project was to study affected families referred to Genetic Center by application of MICROSATELLITES linked to WD gene in order to diagnose pre-symptomatic and carrier members.Material and Methods: Families referred to genetic center by specialists had at least one affected member. The parents of these families were genetically analyzed by applying MICROSATELLITES tightly linked to WD gene. Informative markers were selected and utilized to study all members of the families including patients and siblings to trace the mutated gene.Results: Twenty four families out of 28 families referred by specialists were selected for the study. Nine MICROSATELLITES from WD gene region including: D13S133, D13S228, D13S296, D13S297, D13S298, D13S301, D13S314, D13S315, and D13S316 were selected for haplotype study. 19 families were informative for the study. Two of the markers, D13S314 and D13S301 were highly informative in these families respectively. These markers were utilized to study 12 families and the remaining families (7 families) were studied by applying a combination of one of these markers and other markers.Conclusion: Two of the MICROSATELLITES, D13S314 and D13S301 have the most common application in diagnosis of carrier and pre-symptomatic members of affected families referred from East and West Azarbaijan. Therefore, it is suggested to apply these markers respectively to study further referred families from the mentioned provinces at the first step.

Cites

No record.

References

No record.

Cite

APA: Copy

AZIMI, NEGIN, SOUMI, M.H., JABARPOUR BONYADI, MORTEZA, RAFIEI, MANDANA, SARAMI, F., MOHAMMADIAN, R., FARHOUDI, MAHDI, & BARZEGAR, M.. (2007). APPLICATION OF MICROSATELLITES IN GENETICALLY ANALYSIS OF AFFECTED FAMILIES WITH WILSON'S DISEASE FROM EAST AND WEST AZARBAIJAN. STUDIES IN MEDICAL SCIENCE (THE JOURNAL OF URMIA UNIVERSITY OF MEDICAL SCINCES), 18(2), 461-468. SID. https://sid.ir/paper/63761/en

Vancouver: Copy

AZIMI NEGIN, SOUMI M.H., JABARPOUR BONYADI MORTEZA, RAFIEI MANDANA, SARAMI F., MOHAMMADIAN R., FARHOUDI MAHDI, BARZEGAR M.. APPLICATION OF MICROSATELLITES IN GENETICALLY ANALYSIS OF AFFECTED FAMILIES WITH WILSON'S DISEASE FROM EAST AND WEST AZARBAIJAN. STUDIES IN MEDICAL SCIENCE (THE JOURNAL OF URMIA UNIVERSITY OF MEDICAL SCINCES)[Internet]. 2007;18(2):461-468. Available from: https://sid.ir/paper/63761/en

IEEE: Copy

NEGIN AZIMI, M.H. SOUMI, MORTEZA JABARPOUR BONYADI, MANDANA RAFIEI, F. SARAMI, R. MOHAMMADIAN, MAHDI FARHOUDI, and M. BARZEGAR, “APPLICATION OF MICROSATELLITES IN GENETICALLY ANALYSIS OF AFFECTED FAMILIES WITH WILSON'S DISEASE FROM EAST AND WEST AZARBAIJAN,” STUDIES IN MEDICAL SCIENCE (THE JOURNAL OF URMIA UNIVERSITY OF MEDICAL SCINCES), vol. 18, no. 2, pp. 461–468, 2007, [Online]. Available: https://sid.ir/paper/63761/en

Related Journal Papers