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Article

Characterization of the -16C>G sequence variation in the promoters of both HBG1 and HBG2: convergent evolution of the human gamma-globin genes.

Blood cells, molecules & diseases - 1 Jan 2000

de Vooght Karen M K, van Wijk Richard, Ploos van Amstel Hans K, van Solinge Wouter W

Abstract excerpt

We encountered a homozygous -16C>G mutation in cis at identical positions in the promoters of both human gamma-globin genes in a subject who was also homozygous for Hemoglobin C (HbC). Subsequent analysis of normal control individuals of African American ancestry revealed that both mutations were always present in cis with an allelic frequency of 3%. Furthermore, 10 out of 11 HbC subjects carried the -16C>G...

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Source

Identifiers

PMID: 17462922
DOI: 10.1016/j.bcmd.2007.03.002

Genes

HBG1
HBG2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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