Results: 3

1.
Figure 3

Figure 3. From: Clinical and genetic spectrum of Birt-Hogg-Dub? syndrome patients in whom pneumothorax and/or multiple lung cysts are the presenting feature.

Comparison of FLCN germline mutation spectrum reported by the National Cancer Institute (NCI) group and the current study group. The upper half shows the result of NCI group19 20 while the lower half is the result of the current study (combined with the previously reported result10 and the present study). Symbols: red, single nucleotide substitution; blue, deletion and/or insertion; green, splice site mutation; the bars on the bottom, genomic deletion; a star, one patient.

Makiko Kunogi, et al. J Med Genet. 2010 April;47(4):281-287.
2.
Figure 2

Figure 2. From: Clinical and genetic spectrum of Birt-Hogg-Dub? syndrome patients in whom pneumothorax and/or multiple lung cysts are the presenting feature.

Southern blot analysis of the FLCN gene. Genomic DNA from two patients (JBR14 and JBR18) and two normal controls (N1 and N2) was digested with either BamHI or EcoRI and Southern blotting was performed using 32P-labelled hBHD cDNA probe25 (panel A). Size marker (Mr) was shown on the right. Distribution of 14 exons of the FLCN gene, restriction sites of BamHI and EcoRI, and expected length of fragment are schematically presented (panel B). The location of an undetermined restriction site which is involved in the generation of an aberrant band is indicated by a dotted arrow. Aberrant bands (a, b, c, d, and e) expected to be generated with a large genomic deletion (a thick shaded line) in JBR14 and JBR18 are depicted with the addition of a dotted line.

Makiko Kunogi, et al. J Med Genet. 2010 April;47(4):281-287.
3.
Figure 1

Figure 1. From: Clinical and genetic spectrum of Birt-Hogg-Dub? syndrome patients in whom pneumothorax and/or multiple lung cysts are the presenting feature.

Analysis of the FLCN haploid copy number. FLCN copy number status (mean±SD) was determined by quantitative polymerase chain reaction (qPCR). The representative data from exon 8 to exon 14 of the FLCN gene, and the data of two reference genes, ZNF80 and GPR15, in two patients (JBR14 and JBR18) and normal genomic DNA (calibrator) are presented. JBR14 showed the gene dosage value close to 0.5 in 6 exons (exons 9 to 14), suggesting a large genomic deletion encompassing from exon 9 to exon 14. On the other hand, JBR18 showed the gene dosage value close to 0.5 only in exon 14, suggesting a genomic deletion of exon 14 and 3′-untranslated region. The gene dosage values of the remaining exons (exons 1 to 7) for JBR14 and JBR18 were close to 1.0 (data not shown).

Makiko Kunogi, et al. J Med Genet. 2010 April;47(4):281-287.

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