MOLECULAR CHARACTERIZATION OF BETA-THALASSEMIA IN THE UNITED-ARAB-EMIRATES

被引:15
作者
ELKALLA, S
MATHEWS, AR
机构
[1] Department of Pediatrics and Genetics, Al Wasl Maternity and Pediatric Hospital, Dubai
关键词
D O I
10.3109/03630269308997488
中图分类号
Q5 [生物化学]; Q7 [分子生物学];
学科分类号
071010 ; 081704 ;
摘要
This study is to identify the various beta-thalassemic alleles in the United Arab Emirates (UAE), and compare them with the UAE residents from neighboring countries suffering from the same problem. Gene amplification, dot-blot hybridization with synthetic probes, restriction enzyme analyses, and sequencing were the tools used. Thirteen different mutations were observed in the UAE patients and seventeen mutations in the non-locals. The IVS-I-5 (G-->C) Asian Indian mutation was the most frequent mutation in both groups. Homozygous mutations in both groups were relatively higher than double heterozygous mutations.
引用
收藏
页码:355 / 362
页数:8
相关论文
共 13 条
[1]  
CAO A, 1989, BRIT J HAEMATOL, V71, P309
[2]  
CLEGG JB, 1981, THALASSEMIA SYNDROME
[3]   BETA-THALASSEMIA IN 4 MEDITERRANEAN COUNTRIES - AN EDITORIAL COMMENTARY [J].
HUISMAN, THJ .
HEMOGLOBIN, 1990, 14 (01) :35-39
[4]  
KAZAZIAN HH, 1984, EMBO J, V3, P593, DOI 10.1002/j.1460-2075.1984.tb01853.x
[5]  
KAZAZIAN HH, 1990, SEMIN HEMATOL, V27, P209
[6]  
Maniatis T, 1989, MOL CLONING
[7]   DIRECT DETECTION OF THE COMMON MEDITERRANEAN BETA-THALASSEMIA GENE WITH SYNTHETIC DNA PROBES - AN ALTERNATIVE APPROACH FOR PRENATAL-DIAGNOSIS [J].
ORKIN, SH ;
MARKHAM, AF ;
KAZAZIAN, HH .
JOURNAL OF CLINICAL INVESTIGATION, 1983, 71 (03) :775-779
[8]  
ROSATELLI MC, 1992, AM J HUM GENET, V50, P422
[9]   DETECTION OF THE MOST FREQUENT BETA-THALASSEMIC DEFECT IN SOUTHEAST-ASIA BY PCR [J].
SEBILLON, P ;
BIENVENU, T ;
GIROT, R ;
LABIE, D ;
KAPLAN, JC ;
BELDJORD, C .
HEMOGLOBIN, 1991, 15 (04) :313-315
[10]   BETA-O THALASSEMIA IN SARDINIA IS CAUSED BY A NONSENSE MUTATION [J].
TRECARTIN, RF ;
LIEBHABER, SA ;
CHANG, JC ;
LEE, KY ;
KAN, YW ;
FURBETTA, M ;
ANGIUS, A ;
CAO, A .
JOURNAL OF CLINICAL INVESTIGATION, 1981, 68 (04) :1012-1017