The breakpoints of a constitutional inversion of chromosome 9 associated with haemophagocytic lymphohistiocytosis are not linked to the disease gene.
Br J Haematol
; 104(1): 108-10, 1999 Jan.
Article
em En
| MEDLINE
| ID: mdl-10027721
ABSTRACT
Haemophagocytic lymphohistiocytosis (HLH) is a severe disorder of early infancy consistent with an autosomal recessive inheritance. Neither the genetic locus nor the biochemical defect is known for the disease. A constitutional pericentric inversion of chromosome 9, with breakpoints in bands 9p23 and 9q31, has been reported in a case of HLH, suggesting a possible relationship between this chromosome abnormality and the disease. We investigated such an association, performing a genetic linkage analysis in a set of five consanguineous HLH families. 27 polymorphic markers on chromosome 9 were studied, excluding most of chromosome 9 as a putative site for the HLH gene.
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Base de dados:
MEDLINE
Assunto principal:
Cromossomos Humanos Par 9
/
Histiocitose de Células não Langerhans
/
Quebra Cromossômica
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Inversão Cromossômica
Idioma:
En
Ano de publicação:
1999
Tipo de documento:
Article