CHARACTERIZATION OF BETA GLOBIN GENE MUTATIONS IN ZANJAN PROVINCE: AN INTRODUCTION TO PRENATAL DIAGNOSIS OF THALASSEMIA

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.

MORTAZAVI YOUSEF; TAHERI S.; DERAKHSHANDEH J.; ZEYNALI SIROUS

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

Journal Paper

Paper Information

Journal: Journal of Advances in Medical and Biomedical Research Year:2008 | Volume:16 | Issue:63 Page(s): 1-9

Download Full-Text

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

Persian Verion

View:

1,163

Download:

Cites:

Information Journal Paper

Title

CHARACTERIZATION OF BETA GLOBIN GENE MUTATIONS IN ZANJAN PROVINCE: AN INTRODUCTION TO PRENATAL DIAGNOSIS OF THALASSEMIA

Author(s)

MORTAZAVI YOUSEF | TAHERI S. | DERAKHSHANDEH J. | ZEYNALI SIROUS | Issue Writer Certificate

Keywords

B-THALASSEMIAQ2

MUTATIONQ4

ZANJANQ3

ARMS-PCRQ3

Abstract

Background and Objective: B-THALASSEMIA is an autosomal recessive disease characterized by reduction or complete absence of b-globin gene expression. It has been estimated that more than 2,000,000 carriers as well as 20,000 patients affected with B-THALASSEMIA are living in Iran, a country with more than 70 million population and great ethnic diversity. In this study we aimed to find out the b-globin gene frequency and determine the spectrum of b-globin gene MUTATIONs in ZANJAN province (northwest region) of Iran.Materials and Methods: 5527 individuals who were referred for pre-marriage tests to ZANJAN clinic as well as 27 thalassemia patients were studied. Altogether one hundred and five chromosomes from 78 unrelated B-THALASSEMIA patients or carriers were examined for b-globin gene MUTATIONs by ARMS-PCR and direct gene sequencing. Based on the previous information on common MUTATIONs in Mediterranean populations 24 sites were analyzed.Results: It was found that the B-THALASSEMIA frequency is 1.2% for ZANJAN region. Using the above techniques, the MUTATIONs for 90/105 (86.7 %) of B-THALASSEMIA chromosomes (13 different MUTATIONs) were identified. Fifty eight percent of the MUTATIONs were of common “Mediterranean” type. Of which, IVS-I 110 MUTATION showed the highest frequency (29.5%) followed by IVS-II-1 (13.3%), IVS-I-1 (12.4%) and IVS-I-6 (2.9%). 10.5% of MUTATIONs were of common Asian Indian MUTATIONs (Fr 8/9, 6.7% and IVS-I-5, 3.8%) respectively. CD5 and CD30 and CD36-37 MUTATIONs accounted for 13.3% of the MUTATIONs. (5.7%, 0.95% and 6.7% respectively) MUTATIONs in 14 chromosomes (13.3%) remained uncharacterized.Conclusion: These data suggests that the spectrum of MUTATIONs in ZANJAN province differs from those reported from other parts of Iran, but Mediterranean type of MUTATIONs are more frequent in ZANJAN region. Therefore, in order to save the time and cost, it is recommended that for prenatal diagnosis of thalassemia in ZANJAN province analysis of Mediterranean MUTATIONs should be considered as a front line screening strategy.

Cites

No record.

References

No record.

Cite

APA: Copy

MORTAZAVI, YOUSEF, TAHERI, S., DERAKHSHANDEH, J., & ZEYNALI, SIROUS. (2008). CHARACTERIZATION OF BETA GLOBIN GENE MUTATIONS IN ZANJAN PROVINCE: AN INTRODUCTION TO PRENATAL DIAGNOSIS OF THALASSEMIA. JOURNAL OF ADVANCES IN MEDICAL AND BIOMEDICAL RESEARCH, 16(63), 1-9. SID. https://sid.ir/paper/61108/en

Vancouver: Copy

MORTAZAVI YOUSEF, TAHERI S., DERAKHSHANDEH J., ZEYNALI SIROUS. CHARACTERIZATION OF BETA GLOBIN GENE MUTATIONS IN ZANJAN PROVINCE: AN INTRODUCTION TO PRENATAL DIAGNOSIS OF THALASSEMIA. JOURNAL OF ADVANCES IN MEDICAL AND BIOMEDICAL RESEARCH[Internet]. 2008;16(63):1-9. Available from: https://sid.ir/paper/61108/en

IEEE: Copy

YOUSEF MORTAZAVI, S. TAHERI, J. DERAKHSHANDEH, and SIROUS ZEYNALI, “CHARACTERIZATION OF BETA GLOBIN GENE MUTATIONS IN ZANJAN PROVINCE: AN INTRODUCTION TO PRENATAL DIAGNOSIS OF THALASSEMIA,” JOURNAL OF ADVANCES IN MEDICAL AND BIOMEDICAL RESEARCH, vol. 16, no. 63, pp. 1–9, 2008, [Online]. Available: https://sid.ir/paper/61108/en

Related Journal Papers