Molecular characterization of G6PD deficiency in Oman

被引:28
作者
Daar, S
Vulliamy, TJ
Kaeda, J
Mason, PJ
Luzzatto, L
机构
[1] HAMMERSMITH HOSP,ROYAL POSTGRAD MED SCH,DEPT HAEMATOL,LONDON W12 0NN,ENGLAND
[2] SULTAN QABOOS UNIV,COLL MED,DEPT HAEMATOL,MASQAT,OMAN
关键词
G6PD deficiency; Omani population; population study;
D O I
10.1159/000154348
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
Screening of unselected university students in the Sultanate of Oman revealed an overall frequency of glucose-6-phosphate dehydrogenase (G6PD) deficiency of 26% in males. Samples from 23 G6PD-deficient individuals (a random sub-sample of the student population), were characterised biochemically and at the molecular level. Of 20 deficient men, 15 had G6PD Mediterranean, 2 had G6PD Chatham, 1 had G6PD A- and in 2 the mutation is not yet known. Of the 3 G6PD-deficient woman, 2 were homozygous for the G6PD Mediterranean mutation and 1 was a genetic compound, G6PD Mediterranean/G6PD A-(the first report of this genotype). Our findings establish that the G6PD Mediterranean mutation accounts for most cases of G6PD deficiency in Oman. The presence of G6PD A- at a polymorphic frequency can be regarded as evidence of significant gene flow from Africa.
引用
收藏
页码:172 / 176
页数:5
相关论文
共 25 条
[1]   A GENETIC-STUDY OF THE JORDANIANS [J].
BANERJEE, B ;
SAHA, N ;
DAOUD, ZF ;
KHALAF, FH ;
QUDAH, H .
HUMAN HEREDITY, 1981, 31 (02) :65-69
[2]  
Betke K, 1967, WHO TECH REP SER, V366, P5
[3]  
BEUTLER E, 1992, HUM GENET, V89, P485
[4]  
BEUTLER E, 1991, HUM GENET, V86, P371
[5]  
BEUTLER E, 1989, BLOOD, V74, P2550
[6]  
BEUTLER E, 1990, AM J HUM GENET, V47, P1008
[7]  
CALABRO V, 1993, AM J HUM GENET, V52, P527
[8]  
DEVITA G, 1989, AM J HUM GENET, V44, P233
[9]  
ELHAZMI MAF, 1993, SAUDI MED J, V14, P121
[10]   G6PD HAPLOTYPES SPANNING XQ28 FROM F8C TO RED-GREEN COLOR-VISION [J].
FILOSA, S ;
CALABRO, V ;
LANIA, G ;
VULLIAMY, TJ ;
BRANCATI, C ;
TAGARELLI, A ;
LUZZATTO, L ;
MARTINI, G .
GENOMICS, 1993, 17 (01) :6-14