SPECTRUM OF BETA-THALASSEMIA MUTATIONS IN THE POPULATION OF SAUDI-ARABIA

被引:9
作者
HASOUNAH, FH
SEJENY, SA
OMER, JA
OLD, JM
OLIVER, RWA
机构
[1] UNIV SALFORD,DEPT BIOL SCI,SALFORD M5 4WT,LANCS,ENGLAND
[2] JOHN RADCLIFFE HOSP,INST MOLEC MED,OXFORD OX3 9DU,ENGLAND
[3] ABDULAZIZ UNIV HOSP,DEPT HAEMATOL,JEDDAH,SAUDI ARABIA
关键词
BETA-THALASSEMIA; DNA MUTATIONS; SAUDI ARABIA;
D O I
10.1159/000154294
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
A study of beta-thalassaemia alleles in 29 beta-thalassaemia homozygotes and HbS/beta-thalassaemia patients from western Saudi Arabia using the allele-specific priming technique of the polymerase chain reaction revealed a total of five mutations, The spectrum of mutations found in the western region is significantly different to that previously reported in the eastern region, and brings the total number of mutations observed in Saudi Arabian nationals to ten, A comparison of the types and frequencies of the Saudi Arabian mutations with those found in neighbouring Arab countries is made.
引用
收藏
页码:231 / 234
页数:4
相关论文
共 13 条
[1]  
AQUAYE MJ, 1985, BRIT J HAEMATOL, V60, P99
[2]  
BAYSAL E, 1992, HEMOGLOBIN, V16, P237
[3]  
BOEHM CD, 1986, BLOOD, V67, P1185
[4]  
CHEHAB FF, 1987, BLOOD, V69, P1141
[5]  
ELHAZMI MAF, 1991, 4TH P INT C THAL HAE
[6]   MOLECULAR CHARACTERIZATION OF BETA-THALASSEMIA IN EGYPTIANS [J].
HUSSEIN, IR ;
TEMTAMY, SA ;
ELBESHLAWY, A ;
FEARON, C ;
SHALABY, Z ;
VASSILOPOULOS, G ;
KAZAZIAN, HH .
HUMAN MUTATION, 1993, 2 (01) :48-52
[7]   ANALYSIS OF HUMAN Y-CHROMOSOME-SPECIFIC REITERATED DNA IN CHROMOSOME VARIANTS [J].
KUNKEL, LM ;
SMITH, KD ;
BOYER, SH ;
BORGAONKAR, DS ;
WACHTEL, SS ;
MILLER, OJ ;
BREG, WR ;
JONES, HW ;
RARY, JM .
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1977, 74 (03) :1245-1249
[8]   2 DIFFERENT FORMS OF HOMOZYGOUS SICKLE-CELL DISEASE OCCUR IN SAUDI-ARABIA [J].
PADMOS, MA ;
ROBERTS, GT ;
SACKEY, K ;
KULOZIK, A ;
BAIL, S ;
MORRIS, JS ;
SERJEANT, BE ;
SERJEANT, GR .
BRITISH JOURNAL OF HAEMATOLOGY, 1991, 79 (01) :93-98
[9]  
QUAIFE R, 1994, J MED GENET, V34, P59
[10]   THE SPECTRUM OF BETA-THALASSEMIA MUTATIONS ON THE INDIAN SUBCONTINENT - THE BASIS FOR PRENATAL-DIAGNOSIS [J].
VARAWALLA, NY ;
OLD, JM ;
SARKAR, R ;
VENKATESAN, R ;
WEATHERALL, DJ .
BRITISH JOURNAL OF HAEMATOLOGY, 1991, 78 (02) :242-247