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A−61C and C−101G Hp gene promoter polymorphisms are, respectively, associated with ahaptoglobinaemia and hypohaptoglobinaemia in Ghana
Author(s) -
Teye K,
Quaye IKE,
Koda Y,
Soejima M,
Tsuneoka M,
Pang H,
Ekem I,
Amoah AGB,
Adjei A,
Kimura H
Publication year - 2003
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1034/j.1399-0004.2003.00149.x
Subject(s) - allele , biology , phenotype , gene , genetics , microbiology and biotechnology , allele frequency
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 Hp 2 allele and ahaptoglobinaemia. The C−101G substitution was similar in transcriptional activity to the wild‐type and was associated with Hp 1S allele and hypohaptoglobinaemia. The Hp del 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.