Volume 23, Issue 1 (April 2016)                   J Birjand Univ Med Sci 2016, 23(1): 78-85 | Back to browse issues page

XML Persian Abstract Print


Download citation:
BibTeX | RIS | EndNote | Medlars | ProCite | Reference Manager | RefWorks
Send citation to:

Zandi Dashtebayaz N, Kordi Tamandani D, Naseri M, Anani Sarab G. Mutation spectrum of beta-thalassemia among carriers in Birjand and Amirabad village. J Birjand Univ Med Sci 2016; 23 (1) :78-85
URL: http://journal.bums.ac.ir/article-1-2052-en.html
1- Research assistant, Birjand University of Medical Sciences, Birjand, Iran. .
2- Department of Biology, Sistan and Baluchistan University, Zahedan, Iran.
3- Genomic research center, Birjand university of Medical Sciences, Birjand, Iran.
4- Hepatitis research center, Birjand University of Medical Sciences, Birjand, Iran. , ghansa@yahoo.com
Abstract:   (10972 Views)

Background and Aim: Thalassemia is considered as the most important monogenic disorders around the world. So far, about 60 mutations of this type have been reported in Iranian patients. Comparison between different provinces of the country reveals that the dispersion of the mutations is significantly various with respect to their types and frequencies. The current study aimed at assessing prevalent molecular mutations in β Thalassemia carriers in Birjand  and Amirabad at the suburb of the city.

Materials and Methods: In this descriptive in-vitro study, 34 carriers (15 females and 19 males), who had been identified through marriage screening tests at the health centers in the South Khorasan province were assessed. After obtaining written informed consent of the subjects and completing the respective questionnaires, 2 cc of intravenous blood sample from each subject were collected into EDTA tubes. Salting out and Arms-PCR methods were used for DNA extraction and mutation detection, respectively. Finally, the obtained data was analysed by means of SPSS software (V;19) using Fisher’s test at the significant level of P<0.05).

Results: It was found that among five mutations on 68 chromosomes,  IVS 1-5 mutation with 47.1% frequency was the highest; and the mutations of Codon, Fr 8/9 , IVS II-1 5 , and Codon 37/38/39 had the frequency of 17.6%, 8.8%, 5.9% ,and 5.9% respectively. Out of the mutations, 14.7 % .remained undetermined.

Conclusion: The mutation patterns obtained in Birjand reveal an outstanding difference with the state of affairs in the north and west of IRAN..High frequency of consanguity marriages between thalassemia carrier individuals indicates the potential reason behind increasing the number of patients with major thalassemia.

Full-Text [PDF 297 kb]   (1976 Downloads) |   |   Full-Text (HTML)  (2877 Views)  
Type of Study: Original Article | Subject: Medical Genetics
Received: 2016/02/14 | Accepted: 2016/04/25 | ePublished: 2016/05/7

Add your comments about this article : Your username or Email:
CAPTCHA

Send email to the article author


Rights and permissions
Creative Commons License This work is licensed under a Creative Commons Attribution-NonCommercial 4.0 International License.

© 2024 CC BY-NC 4.0 | Journal of Birjand University of Medical Sciences

Designed & Developed by : Yektaweb