| English |
| deletion |
  |
|
| Attestation |
3
|
| Part of speech |
Noun
|
| Grammatical label |
Countable
|
| Variant |
Gene deletion
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| Definition |
Loss of a segment of DNA from a chromosome (and hence from the genome). The first human chromosome deletion was detected in 1963 by Jerome Lejeune and his colleagues in Paris. They discovered loss of part of 5p, the short (p) arm of chromosome 5, in children with a hitherto-undescribed condition with mental retardation and multiple congenital anomalies (birth defects) they named the cri du chat (cat-cry) syndrome.
|
| Definition source |
MedicineNet. Medterms Medical Dictionary.
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| Context |
This way, the presence of the deletion of 4 base pairs from 225 to 222 in the promoter region of the Ag gene, in our two cases (II1 and II2), would favor the expression of Gg10 which would already be augmented by the presence of Xmn I-g.
|
| Context source |
Ataulfo Gonzalez F., et al. (1999). ‘C-->T mutation at -158 G gamma HPFH associated with 4 bp deletion (-225-222) in the promoter region of the A gamma gene in homozygous beta 0 39 nonsense thalassemia’. Haematologica 84(1):90-2. (RISCEN43)
|
| Subject field |
Haemopoiesis
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| Sub-field (level 1) |
Thalassemias
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| Generic concept |
Globin synthesis imbalance
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| Related concept |
Globin gene, alpha-thalassemias, gene therapy, transcription, point mutation
|
| it |
Delezione
|
| Reliability code |
3
|
