Native highland and lowland populations differ in γ-globin gene promoter polymorphisms related to altered fetal hemoglobin levels and delayed fetal to adult globin switch after birth
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- ROTTGARDT INKEN
- Department of Human Biology, Zoological Institute, Christian Albrechts-University, Kiel
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- ROTHHAMMER FRANCISCO
- Instituto de Alta Investigación, Universidad de Tarapacá, Arica Departamento de Biología Celular y Genética Molecular, Facultad de Medicina, Universidad de Chile, Santiago
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- DITTMAR MANUELA
- Department of Human Biology, Zoological Institute, Christian Albrechts-University, Kiel
書誌事項
- タイトル別名
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- Native highland and lowland populations differ in .GAMMA.-globin gene promoter polymorphisms related to altered fetal hemoglobin levels and delayed fetal to adult globin switch after birth
- Native highland and lowland populations differ in g globin gene promoter polymorphisms related to altered fetal hemoglobin levels and delayed fetal to adult globin switch after birth
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Lowered partial oxygen pressure at high altitude exerts a strong selection pressure. Since hypoxia is most serious for the fetus, fetal hemoglobin genes (HBG1, HBG2) are candidates for genetic adaptation to high altitude. The aim of this study was to compare promoter polymorphisms of these genes for differences between highland and lowland populations. In 50 native highlanders of the Chilean Andes and 50 lowlanders of European ancestry, the promoters of HBG1 and HBG2 genes were sequenced. In the HBG1 promoter, the 4-basepair AGCA deletion was less frequently present in highlanders than in lowlanders (10% vs. 24%, P = 0.014). In the HBG2 promoter, the frequency of the T allele of the common −158 C > T polymorphism was decreased in highlanders, compared with lowlanders (8% vs. 34%, P = 0.000009). A combined analysis of both markers showed that none of the highlanders with the AGCA deletion carried the HBG2 T allele, in contrast to 43% of lowlanders (P = 0.030). Since the AGCA deletion is associated with diminished expression of fetal γ globin chains, it might affect fetal oxygen supply at high altitude. Both the AGCA deletion and the HBG2 −158 T allele are associated with a delayed fetal to adult globin switch after birth, resulting in a delayed production of adult hemoglobin, thereby possibly affecting the oxygen supply of infants at high altitude.<br>
収録刊行物
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- Anthropological Science
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Anthropological Science 118 (1), 41-48, 2010
一班社団法人 日本人類学会
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詳細情報 詳細情報について
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- CRID
- 1390282679287592832
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- NII論文ID
- 10029567818
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- NII書誌ID
- AA11307827
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- ISSN
- 13488570
- 09187960
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- NDL書誌ID
- 10650502
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- 本文言語コード
- en
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- データソース種別
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- JaLC
- NDL
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