Molecular characterization of erythrocyte glucose-6-phosphate dehydrogenase deficiency in Al-Ain District, United Arab Emirates

被引:33
作者
Bayoumi, RA
NurEKamal, MSA
Tadayyon, M
Mohamed, KKA
Mahboob, BH
Qureshi, MM
Lakhani, MS
Awaad, MO
Kaeda, J
Vulliamy, TJ
Luzzatto, L
机构
[1] AL AIN HOSP,DEPT INTERNAL MED,AL AIN,U ARAB EMIRATES
[2] HAMMERSMITH HOSP,ROYAL POSTGRAD MED SCH,DEPT HAEMATOL,LONDON,ENGLAND
关键词
population genetics; glucose-6-phosphate dehydrogenase; United Arab Emirates;
D O I
10.1159/000154342
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
In a cross-sectional study, the activity, electrophoretic mobility and genotypes of glucose-6-phosphate dehydrogenase (G6PD) were determined among healthy, UAE national school boys from Al-Ain District in the United Arab Emirates. The prevalence of G6PD deficiency in this population sample was 11%, The majority of G6PD-deficient subjects were descendants of Omani, Baluchi or Yemeni migrants. Of 18 deficient subjects, 16 had an enzyme activity of < 10% of normal while 2 had an activity of just above 10%, Electrophoresis was performed on 166 samples and showed that, apart from deficient samples, all had the normal mobility of G6PD type B. Of the 18 deficient subjects, 14 had the B type mobility of G6PD Mediterranean and 4 had the A type mobility of G6PD A-. Genotyping demonstrated that 10 had the Mediterranean mutation while 3 had the A- mutation, consistent with their electrophoretic mobility, Another 3 had the G6PD Aures mutation, recently described as polymorphic in Algeria and Spain. The mutations in the remaining 2 subjects have not yet been identified.
引用
收藏
页码:136 / 141
页数:6
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