A novel deletion causing (epsilon gamma delta beta) degrees thalassaemia in a Chilean family.
Br J Haematol
; 123(1): 154-9, 2003 Oct.
Article
em En
| MEDLINE
| ID: mdl-14510959
We describe a novel deletion causing (epsilongammadeltabeta) degrees thalassaemia segregating in three generations of a Chilean family of Spanish descent. Heterozygotes for the deletion were all affected by neonatal haemolytic anaemia. The deletion of 152,569 bp extends from 77 kb upstream of the epsilon gene to 31 kb downstream of the beta gene, and includes the entire beta-globin gene cluster and two upstream olfactory receptor genes. Comparison of the sequences of the deletion junction with those of the flanking normal DNA suggests that the deletion results from a non-homologous recombination event. The insertion of 16 'orphan' nucleotides in the deletion junction creates a perfect inverted repeat of 12 nucleotides, forming a 12-bp stem with a four-nucleotide loop that could have contributed to the illegitimate recombination. The 3' breakpoint is located within an L1 family repeat that contains a perfect 160-bp palindrome, and is in close proximity to the 3' breakpoints of five other deletions in the beta cluster - Indian (HPFH-3), Italian (HPFH-4) and Vietnamese GgammaAgamma (deltabeta) degrees HPFH, German and Belgian Ggamma (Alphagammadeltabeta) degrees thalassaemia.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Talassemia
/
Cromossomos Humanos Par 11
/
Globinas
/
Deleção de Genes
/
Anemia Hemolítica Congênita
Limite:
Female
/
Humans
/
Male
/
Newborn
/
Pregnancy
País/Região como assunto:
America do sul
/
Chile
Idioma:
En
Revista:
Br J Haematol
Ano de publicação:
2003
Tipo de documento:
Article
País de publicação:
Reino Unido