The β‐thalassaemia mutations in the population of Cyprus

作者: E. Baysal , K. Indrak , G. Bozkurt , A. Berkalp , E. Aritkan

DOI: 10.1111/J.1365-2141.1992.TB03000.X

关键词:

摘要: We have identified the beta-thalassaemia alleles in nearly all known Turkish Cypriot homozygotes and over 700 Greek heterozygotes living on island of Cyprus. The data confirmed earlier observations that IVS-I-100 (G-->A) mutation is present for about 74-80%, while three other [IVS-II-745 (C-->G), IVS-I-6 (T-->C), IVS-I-1 (G-->A)] occur at frequencies 5-8%. Nearly identical percentages were observed two groups, quite different from those patients Greece Turkey. This suggests close contacts between communities during many centuries without a major recent influence or carriers.

参考文章(16)
JC Diaz-Chico, KG Yang, TA Stoming, DG Efremov, A Kutlar, F Kutlar, M Aksoy, C Altay, A Gurgey, Y Kilinc, Mild And Severe Beta-Thalassemia Among Homozygotes From Turkey - Identification Of The Types By Hybridization Of Amplified Dna With Synthetic Probes Blood. ,vol. 71, pp. 248- 251 ,(1988) , 10.1182/BLOOD.V71.1.248.248
C. B. Modell, A. Benson, C. R. P. Wright, Incidence of  -Thalassaemia Trait among Cypriots in London BMJ. ,vol. 3, pp. 737- 738 ,(1972) , 10.1136/BMJ.3.5829.737
A Sozuoz, A Berkalp, A Figus, A Loi, M Pirastu, A Cao, Beta thalassaemia mutations in Turkish Cypriots. Journal of Medical Genetics. ,vol. 25, pp. 766- 768 ,(1988) , 10.1136/JMG.25.11.766
M. Aksoy, A. Kutlar, G. D. Efremov, N. Nikolov, G. Petkov, A. L. Reese, T. Harano, S. S. Chen, T. H. J. Huisman, Haplotypes and levels of fetal hemoglobin andGγ toAγ ratios in mediterranean patients with thalassemia minor and major American Journal of Hematology. ,vol. 20, pp. 7- 16 ,(1985) , 10.1002/AJH.2830200103
Th. Ashiotis, Z. Zachariadis, K. Sofroniadou, D. Loukopoulos, G. Stamatoyannopoulos, Thalassaemia in Cyprus BMJ. ,vol. 2, pp. 38- 42 ,(1973) , 10.1136/BMJ.2.5857.38
A.L Fawdry, Cooley's anaemia: Notes on six adult cases Transactions of the Royal Society of Tropical Medicine and Hygiene. ,vol. 40, pp. 87- 91 ,(1946) , 10.1016/0035-9203(46)90064-8
Juan C. Diaz-Chico, Ke-gong Yang, Ke-yi Yang, Dimitar G. Efremov, Terrance A. Stoming, Titus H.J. Huisman, The detection of β-globin gene mutations in β-thalassemia using oligonucleotide probes and amplified DNA Biochimica et Biophysica Acta. ,vol. 949, pp. 43- 48 ,(1988) , 10.1016/0167-4781(88)90052-8
J. H. Gonzalez-Redondo, C. Kattamis, T. H. J. Huisman, Characterization of Three Types of β0-Thaussemia Resulting from a Partial Deletion of the β-Globin Gene Hemoglobin. ,vol. 13, pp. 377- 392 ,(1989) , 10.3109/03630268909003400