Distribution of beta-thalassemia mutations in the northern provinces of Iran.

Distribution of beta-thalassemia mutations in the northern provinces of Iran. Pupak Derakhshandeh-Peykar, Derakhshandeh-Peykar, P., Akhavan-Niaki, H., Tamaddoni, A., Ghawidel-Parsa, S., Naieni, K. H., Rahmani, M., Manijeh Rahmani, Babrzadeh, F., Dilmaghani-Zadeh, M., Farhud, D. D., Dariush Daneshvar Farhud, Dariush Daneshvar Farhud, Dariush Daneshvar Farhud, & Farhud, D. D. Hemoglobin, 31(3):351–356, January, 2007. MAG ID: 2107988252
doi abstract bibtex

β-Thalassemia (thal) is one of the most common autosomal recessive disorders in Iran. There are more than two million carriers of β-thal and over 15,000 people affected with β-thal major who live in Iran. Prevalent mutations were identified by examining genomic DNAs isolated from 392 blood samples of β-thal carriers from three northern provinces of Iran. Furthermore, 172 pregnant women were analyzed from the 196 couples who requested pregnant diagnosis for β-thal. Allele identification was carried out using routine reverse dot-blot, amplification refractory mutation system (ARMS), and genomic sequencing. The most common mutation, IVS-II-1 (G→A), is followed, in order of frequency, by codon 30 (G→C), frameshift codons (FSC) 8,9 (+G), FSC 22/23/24 (−AAGTTGG), IVS-I-110 (G→A), IVS-I-5 (G→C), IVS-II-745 (C→G), IVS-I-2 (T→C), FSC 8 (−AA), IVS-I,3′-end (−25 bp), IVS-I-1 (G→A), FSC 36/37 (−T), IVS-I-6 (T→C), FSC 5 (−CT), −28 (A→C), codon 37 (G→A), IVS-II-2,3 (+11/−2), −30 (T→A), and −88 (C→A). We have also revea...

@article{pupak_derakhshandeh-peykar_distribution_2007,
	title = {Distribution of beta-thalassemia mutations in the northern provinces of {Iran}.},
	volume = {31},
	doi = {10.1080/03630260701462030},
	abstract = {β-Thalassemia (thal) is one of the most common autosomal recessive disorders in Iran. There are more than two million carriers of β-thal and over 15,000 people affected with β-thal major who live in Iran. Prevalent mutations were identified by examining genomic DNAs isolated from 392 blood samples of β-thal carriers from three northern provinces of Iran. Furthermore, 172 pregnant women were analyzed from the 196 couples who requested pregnant diagnosis for β-thal. Allele identification was carried out using routine reverse dot-blot, amplification refractory mutation system (ARMS), and genomic sequencing. The most common mutation, IVS-II-1 (G→A), is followed, in order of frequency, by codon 30 (G→C), frameshift codons (FSC) 8,9 (+G), FSC 22/23/24 (−AAGTTGG), IVS-I-110 (G→A), IVS-I-5 (G→C), IVS-II-745 (C→G), IVS-I-2 (T→C), FSC 8 (−AA), IVS-I,3′-end (−25 bp), IVS-I-1 (G→A), FSC 36/37 (−T), IVS-I-6 (T→C), FSC 5 (−CT), −28 (A→C), codon 37 (G→A), IVS-II-2,3 (+11/−2), −30 (T→A), and −88 (C→A). We have also revea...},
	number = {3},
	journal = {Hemoglobin},
	author = {{Pupak Derakhshandeh-Peykar} and Derakhshandeh-Peykar, Pupak and Akhavan-Niaki, Haleh and Tamaddoni, Ahmad and Ghawidel-Parsa, Shohreh and Naieni, Kourosh Holakouie and Rahmani, Manijeh and {Manijeh Rahmani} and Babrzadeh, Farbod and Dilmaghani-Zadeh, Mohammad and Farhud, Dariush D. and {Dariush Daneshvar Farhud} and {Dariush Daneshvar Farhud} and {Dariush Daneshvar Farhud} and Farhud, Dariush Daneshvar},
	month = jan,
	year = {2007},
	doi = {10.1080/03630260701462030},
	pmid = {17654072},
	note = {MAG ID: 2107988252},
	pages = {351--356},
}

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Prevalent mutations were identified by examining genomic DNAs isolated from 392 blood samples of β-thal carriers from three northern provinces of Iran. Furthermore, 172 pregnant women were analyzed from the 196 couples who requested pregnant diagnosis for β-thal. Allele identification was carried out using routine reverse dot-blot, amplification refractory mutation system (ARMS), and genomic sequencing. The most common mutation, IVS-II-1 (G→A), is followed, in order of frequency, by codon 30 (G→C), frameshift codons (FSC) 8,9 (+G), FSC 22/23/24 (−AAGTTGG), IVS-I-110 (G→A), IVS-I-5 (G→C), IVS-II-745 (C→G), IVS-I-2 (T→C), FSC 8 (−AA), IVS-I,3′-end (−25 bp), IVS-I-1 (G→A), FSC 36/37 (−T), IVS-I-6 (T→C), FSC 5 (−CT), −28 (A→C), codon 37 (G→A), IVS-II-2,3 (+11/−2), −30 (T→A), and −88 (C→A). 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