Genetic diagnosis of a patient with non-syndromic variants of congenital neutropenia / 中华内科杂志
Chinese Journal of Internal Medicine
; (12): 922-925, 2011.
Article
em Zh
| WPRIM
| ID: wpr-422841
Biblioteca responsável:
WPRO
ABSTRACT
ObjectiveTo explore the procedures and methods for genetic diagnosis in one nonsyndromic variants of congenital neutropenia (NSVCN) patient and its pathogenic mutation.Methods Genomic DNA was prepared from one NSVCN patient who had progressed to chronic myelomonocytic leukemia and ELA2,HAX1,WASp and GFI1 genes were amplified and sequenced.Results A novel compound heterogeneous mutation consisting of two frame-shift mutations (c.430-1insG and c.655- 9del5bp) was found in HAX1 gene.ConclusionA practically genetic diagnosis procedure for NSVCN has been established,and the novel HAX1 gene mutation may contribute to the etiology of NSVCN.
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Base de dados:
WPRIM
Tipo de estudo:
Diagnostic_studies
Idioma:
Zh
Ano de publicação:
2011
Tipo de documento:
Article