| نویسندگان | زهرا رضوانی,پرستو عارضی |
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| همایش | دومین کنگره بین المللی و چهاردهمین کنگره ژنتیک ایران |
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| تاریخ برگزاری همایش | ۲۰۱۶-۵-۲۱ |
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| محل برگزاری همایش | تهران |
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| نوع ارائه | سخنرانی |
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| سطح همایش | بین المللی |
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چکیده مقاله
Beta thalassemia is an inherited hematological disorder with an autosomal recessive pattern. Nowadays, over
200 different mutations in HBB gene have been identified. In Iran this disease can be induced by at least 47
different mutations in β-globin gene. About 10 betaglobin mutations (common mutations) covers more than 80%
of the total β-thalassemia defects present in Iran. The aim of this study was to identify spectrum of common Beta
thalassemia mutations among β-thalassemia patients in Kashan in central Iran.
DNA were extracted from 40 whole blood using salting out method. 80 chromosomes of 40 β-thalassemia
patients (major and intermedia) identified in our study. Screening for causal mutations was carried out using
Amplification Refractory System technique (ARMS-PCR).
Among 10 common mutations, IVS II-I was the peridominant mutation (30%) followed by decreasing of
frequency by the Fr 36-37 (20%), Fr 8-9 (15%), IVS I-110 (12.5%), codon 8 (10%), IVS I-6 (7.5%) and IVS I-5
(5%). IVS I 3´ end(-25 del), codon 44 and codon 39 not found in our study.
Our findings show that the Kashan population contain a wide variety of thalassemia allelic distribution. IVS II-I
and Fr 36-37 were the most common mutation in this study.The result of this research is compatible with the
results of other areas in the center of Iran. These results can be used as basis for screening of Beta thalassemia
and prenatal diagnosis.