Abstract |
In the present study, DNA sequencing of the genes SRGN, ARF6, AP3B1, and SH2D1A was performed in a well defined cohort of 18 families with familial hemophagocytic lymphohistiocytosis (FHL). A heterozygous nucleotide change (C > T) in the 3'untranslated region of the SRGN gene and a monoallelic 3-base pair deletion (c.2409_2411delGAA) in exon 21 of the AP3B1 gene were observed in two different families. Additionally, two novel polymorphisms, one in intron 17 of AP3B1 and another in intron 2 of SH2D1A were identified. We conclude that mutations in SRGN, ARF6, and AP3B1 are not likely to be common in patients fulfilling the FHL criteria.
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Authors | Daoxin Ma, Eva Rudd, Josefine Edner, Sofie Gavhed, Kim Göransdotter Ramme, Bengt Fadeel, Magnus Nordenskjöld, Jan-Inge Henter, Chengyun Zheng |
Journal | Pediatric blood & cancer
(Pediatr Blood Cancer)
Vol. 50
Issue 5
Pg. 1067-9
(May 2008)
ISSN: 1545-5017 [Electronic] United States |
PMID | 18000860
(Publication Type: Journal Article, Research Support, Non-U.S. Gov't)
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Copyright | (c) 2008 Wiley-Liss, Inc. |
Chemical References |
- 3' Untranslated Regions
- ADP-Ribosylation Factor 6
- AP3B1 protein, human
- Adaptor Protein Complex 3
- Adaptor Protein Complex beta Subunits
- Intracellular Signaling Peptides and Proteins
- Proteoglycans
- SH2D1A protein, human
- Signaling Lymphocytic Activation Molecule Associated Protein
- Vesicular Transport Proteins
- serglycin
- ADP-Ribosylation Factors
- ARF6 protein, human
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Topics |
- 3' Untranslated Regions
(genetics)
- ADP-Ribosylation Factor 6
- ADP-Ribosylation Factors
(genetics)
- Adaptor Protein Complex 3
(genetics)
- Adaptor Protein Complex beta Subunits
(genetics)
- Child
- Child, Preschool
- Cohort Studies
- DNA Mutational Analysis
- Exons
(genetics)
- Female
- Humans
- Infant
- Intracellular Signaling Peptides and Proteins
(genetics)
- Lymphohistiocytosis, Hemophagocytic
(genetics)
- Male
- Mutation
(genetics)
- Polymorphism, Genetic
(genetics)
- Proteoglycans
(genetics)
- Signaling Lymphocytic Activation Molecule Associated Protein
- Vesicular Transport Proteins
(genetics)
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