G6PD deficiency assessment in Freetown, Sierra Leone, reveals further insight into the molecular heterogeneity of G6PD A-
G6PD deficiency assessment in Freetown, Sierra Leone, reveals further insight into the molecular heterogeneity of G6PD A-
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DOI：
10.1007/s10038-008-0294-y
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发表时间：
2008-07-01
影响因子：
3.5
通讯作者：
Matsuoka, Hiroyuki
中科院分区：
文献类型：
--
作者：
Jalloh, Amadu;Jalloh, Muctarr;Matsuoka, Hiroyuki
葡萄糖-6-磷酸脱氢酶（G6 PD）缺乏症在非洲的发病率很高，尽管在许多国家缺乏精确的数据。我们调查了129名无关的受试者（71名男性受试者，58名女性受试者）访问塞拉利昂弗里敦的一家教学医院，收集基线数据的G6 PD缺乏症的分布在各个民族在该国。我们通过两次基于甲偶氮的血液检测确认了8名G6 PD缺陷的男性受试者（占检查的男性受试者的11.3%），并且通过测序G6 PD基因的外显子3-5，在11名男性受试者和8名女性受试者中检测到常见的376 A> G突变。进一步对所选样品的外显子2-13和内含子5、7、8和11进行测序。在缺陷的男性受试者中，6名是携带双突变（202 G> A和376 A> G）的G6 PD A-，他们都在Temne和Mende种族群体中。其他包括A-Betica和在外显子5中具有双突变的新变体（311 G> A和376 A> G分别形成104 Arg > His和126 Asn > Asp），我们将其命名为G6 PD Sierra Leone。随后的单倍型分析将这种新变体与G6 PD A-“家族”联系起来。
Glucose-6-phosphate dehydrogenase (G6PD) deficiency in Africa is of high prevalence, although precise data are lacking in many individual nations. We investigated 129 unrelated subjects (71 male subjects, 58 female subjects) visiting a teaching hospital in Freetown, Sierra Leone, to collect baseline data on the distribution of G6PD deficiency among respective ethnic groups in the country. We confirmed eight G6PD-deficient male subjects by two formazan-based blood tests (11.3% of the male subjects examined), and also detected the common 376A > G mutation in 11 male subjects and eight female subjects by sequencing exons 3-5 of the G6PD gene. Selected samples were further sequenced for exons 2-13 and introns 5, 7, 8, and 11. Among the deficient male subjects, six were G6PD A- carrying the double mutations (202G > A and 376A > G), all of whom were in the Temne and Mende ethnic groups. Others included A- Betica, and a novel variant having double mutations in exon 5 (311G > A and 376A > G forming 104 Arg > His and 126 Asn > Asp, respectively), which we designate as G6PD Sierra Leone. Subsequent haplotype analysis linked this novel variant to the G6PD A- "family".