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Information Journal Paper

Title

DISTRIBUTION OF β-GLOBIN GENE MUTATIONS IN THALASSEMIA MINOR POPULATION OF KERMAN PROVINCE, IRAN

Pages

  69-76

Abstract

 Background: MUTATIONS in b-globin gene may result in b-thalassemia major, which is one of the most common genetic disorders in IRAN and some other countries. Knowing the beta-globin mutation spectrum improves the efficiency of prenatal diagnosis in the affected fetuses (major b-thalassemia) of heterozygote couples.Methods: Couples with high hemoglobin A2 and low mean corpuscular volume were studied as suspicious of –thalassemia carriers in Genetic Laboratory of Afzalipour Hospital, Kerman, IRAN. We used amplification refractory mutation system, reverse hybridization, and DNA sequencing to determine the spectrum of b-globin gene mutation in the people who involved with b-thalassemia minor in this province.Results: Among the 266 subjects, 17 different types of mutation in b-globin gene were identified. Three of the MUTATIONS account for 77.1% of the studied cases. IVSI-5(G> C) was the most frequent mutation (66.2%) followed by IVSII-I (G> A) (6%) and Fr 8-9 (+G) (4.9%). The less frequent MUTATIONS include: IVSI-6(T> C), codon 15 (G>A), codon 44 (-C), codon 39 (C>T), codon 8 (-AA), codon30 (G> C), IVSI-110 (G > A), codon 36-37 (-T), 619bp deletion, codon 5 (-CT), IVSI-25bp del, codon 41- 42(-TTCT), IVSI-I (G> A), and bnt30 (T>A) were accounted for 19.5%. Unknown alleles comprised 3.4% of the MUTATIONS. Conclusion: However, the frequencies of different MUTATIONS reported here are significantly different from those found in other part of the world and even other IRANian provinces. Reporting a number of these MUTATIONS in the neighboring countries such as Pakistan can be explained by gene flow phenomenon.

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    APA: Copy

    SALEH GOUHARI, N., & BAZRAFSHANI, M.R.. (2010). DISTRIBUTION OF β-GLOBIN GENE MUTATIONS IN THALASSEMIA MINOR POPULATION OF KERMAN PROVINCE, IRAN. IRANIAN JOURNAL OF PUBLIC HEALTH, 39(2), 69-76. SID. https://sid.ir/paper/272721/en

    Vancouver: Copy

    SALEH GOUHARI N., BAZRAFSHANI M.R.. DISTRIBUTION OF β-GLOBIN GENE MUTATIONS IN THALASSEMIA MINOR POPULATION OF KERMAN PROVINCE, IRAN. IRANIAN JOURNAL OF PUBLIC HEALTH[Internet]. 2010;39(2):69-76. Available from: https://sid.ir/paper/272721/en

    IEEE: Copy

    N. SALEH GOUHARI, and M.R. BAZRAFSHANI, “DISTRIBUTION OF β-GLOBIN GENE MUTATIONS IN THALASSEMIA MINOR POPULATION OF KERMAN PROVINCE, IRAN,” IRANIAN JOURNAL OF PUBLIC HEALTH, vol. 39, no. 2, pp. 69–76, 2010, [Online]. Available: https://sid.ir/paper/272721/en

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