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Case Reports
. 2012 Jul;158(1):146-9.
doi: 10.1111/j.1365-2141.2012.09110.x. Epub 2012 Apr 2.

Phenotypic heterogeneity and evidence of a founder effect associated with G6PC3 mutations in patients with severe congenital neutropenia

Bradley N Smith, Catherine Evans, Akbar Ali, Phil J Ancliff, Bu'hussain Hayee, Anthony W Segal, Georgina Hall, Zuhre Kaya, Abdul Rauf Shakoori, David C Linch, Rosemary E Gale
Case Reports

Phenotypic heterogeneity and evidence of a founder effect associated with G6PC3 mutations in patients with severe congenital neutropenia

Bradley N Smith et al. Br J Haematol. 2012 Jul.
No abstract available

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Figures

Fig 1
Fig 1
WAVE chromatograms, restriction enzyme digests and haplotype study of G6PC3 mutant-positive kindreds. (A) WAVE chromatograms of exon 1 and exon 5 polymerase chain reaction (PCR) products from mutation-positive patients mixed with known wild-type (WT) PCR products. (B) (i) PCR products of Patient 1, his affected sister and parents carrying the c.190_210del mutation. (ii) TaqI digestion confirming the c.623T>G mutation in Patient 2 and her parents. (iii) DdeI digestion of PCR products confirming the c.130C>T mutation in Patients 3 and 4. Parental results (lanes 3 and 4) were the same for both patients. (C) Microsatellite and SNP analysis of the G6PC3 locus in kindreds 3 and 4 with the c.130C>T mutation. The shared haplotype flanked by markers D17S951 and D17S1827 is highlighted.
Fig 2
Fig 2
Percentage of non-viable neutrophils in patients with the p.Thr64_Ile70del and p.Pro44Ser mutations, their carrier parents and controls. Graphical representation of the percentage of non-viable neutrophils (Annexin V-positive, propidium iodide-negative plus Annexin V-positive propidium iodide-positive cells) from patients, parents and controls after incubation for up to 3 h either untreated or in the presence of 5 μmol/l staurosporine.
See this image and copyright information in PMC

References

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