A−61C and C−101G Hp gene promoter polymorphisms are, respectively, associated with ahaptoglobinaemia and hypohaptoglobinaemia in Ghana
A−61C and C−101G Hp gene promoter polymorphisms are, respectively, associated with ahaptoglobinaemia and hypohaptoglobinaemia in Ghana
复制标题
DOI：
10.1034/j.1399-0004.2003.00149.x
复制
发表时间：
2003-11
影响因子：
3.5
通讯作者：
K. Teye;I. Quaye;Y. Koda;M. Soejima;M. Tsuneoka;H. Pang;I. Ekem;A. Amoah;A. Adjei;H. Kimura
中科院分区：
文献类型：
--
作者：
K. Teye;I. Quaye;Y. Koda;M. Soejima;M. Tsuneoka;H. Pang;I. Ekem;A. Amoah;A. Adjei;H. Kimura
我们在123名随机选择的加纳人中调查了Hp0表型的遗传基础。根据Hb补充的血浆Hp表型的经典方法，共有17人被确定为Hp0表型。在17名Hp0个体中，通过免疫印迹和双重免疫扩散，9名受试者被进一步归类为无结合球蛋白血症，8名受试者被进一步归类为低结合球蛋白血症。我们在Hp基因5‘侧翼区发现了3个已知的碱基替换(A−55G、A−61C和T−104A)和3个新的碱基替换(C−101G、T−191G和C−242T)。A−61C碱基替换显著降低了转录活性，并与HP2等位基因和脱水球蛋白血症密切相关。C−101G替换在转录活性上与野生型相似，并与Hp1S等位基因和低结合球蛋白血症相关。在亚洲人群中发现的Hpdel等位基因缺失。我们得出结论，加纳的Hp0表型与亚洲的Hp0表型有显著不同的遗传基础。
We have investigated the genetic basis for the Hp0 phenotype amongst 123 randomly selected Ghanaians. A total of 17 individuals were determined to be Hp0 phenotype, based on the classical method for Hp phenotyping of Hb‐supplemented plasma. Out of the 17 Hp0 individuals, nine subjects were further classified as ahaptoglobinaemic and eight as hypohaptoglobinaemic by Western blots and double immunodiffusion. We identified three previously known base substitutions (A−55G, A−61C and T−104A) and three new ones (C−101G, T−191G and C−242T) within the 5′ flanking region of the Hp gene. The A−61C base substitution significantly decreased transcriptional activity and was associated strongly with Hp2 allele and ahaptoglobinaemia. The C−101G substitution was similar in transcriptional activity to the wild‐type and was associated with Hp1S allele and hypohaptoglobinaemia. The Hpdel allele seen in Asian populations was absent. We conclude that the Hp0 phenotype in Ghana has a genetic basis that differs significantly from that seen in Asia.