A single point mutation is the cause of the Greek form of hereditary persistence of fetal haemoglobin

摘要: In normal humans the fetal stage-specific gamma-globin genes are silenced after birth and not expressed in adult. Exceptions seen cases of hereditary persistence haemoglobin (HPFH). These clinically important because elevated levels can alleviate beta-thalassaemia sickle cell anaemia. One class mutations is associated with point promoter (non-deletion HPFH), whereas others seem to be caused by large deletions 3' genes. To test whether mutation found Greek non-deletion HPFH (guanine adenine at nucleotide position -117) cause raised adult stage just a linked polymorphism, we engineered this into gene. When gene was introduced mice, presence -117 results expression high level concomitant decrease beta-globin mice. We show that these changes correlate loss binding transcription factor GATA1 promoter, suggesting it may act as negative regulator adults.