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Results: 3

1.
Figure  A

Figure A. From: Microdeletion of LIT1 in Familial Beckwith-Wiedemann Syndrome.

Microsatellite analysis. The indicated family members were typed for microsatellites across 11p15 using FAM-labeled primers. PCR products were separated and detected using an ABI3100 capillary electrophoresis instrument, and analysis was performed using Genescan software (ABI). The peaks represent the different size alleles in the individual; the number below indicates the peak size in base pairs.

Emily L. Niemitz, et al. Am J Hum Genet. 2004 November;75(5):844-849.
2.
Figure  1

Figure 1. From: Microdeletion of LIT1 in Familial Beckwith-Wiedemann Syndrome.

Haplotype and methylation analysis of LIT1 microdeletion. A, Haplotype mapping using 11p15 microsatellite markers D11S988, D11S1318, D11S922, D11S2071, which were amplified using FAM-labeled primers and detected using an ABI 3100 capillary electrophoresis instrument. Haplotypes were constructed using peak size data (see fig. A [online only]). The haplotypes of individuals I-1 and II-3 are inferred. B, Methylation at LIT1 and H19, assayed by methyl-sensitive Southern blotting using genomic DNA from the indicated individuals. For LIT1, the upper band (6.0 kb) is methylated and represents the maternal allele, and the lower band (4.2 kb) is unmethylated and represents the paternal allele. For H19, the upper band (1.8 kb) is methylated and represents the paternal allele, and the lower band (1.0 kb) is unmethylated and represents the maternal allele. LIT1 shows gain of methylation in II-2 and loss of methylation in III-4. H19 is unaffected.

Emily L. Niemitz, et al. Am J Hum Genet. 2004 November;75(5):844-849.
3.
Figure  2

Figure 2. From: Microdeletion of LIT1 in Familial Beckwith-Wiedemann Syndrome.

Deletion of LIT1 and altered expression of p57KIP2. A, Genomic copy number of sequences in KVLQT1 in individuals II-2 and III-4 and in four normal control individuals. Genomic DNA was amplified in the presence of a Taqman probe and normalized to PMP22 on chromosome 17. The X-axis indicates KVLQT1 genomic sequence (GenBank accession number AJ006345), and the Y-axis indicates the relative copy number of each probed sequence. See the appendix (online only) for primer and probe sequences. B, Two-color FISH using PAC probes in lymphoblastoid nuclei from patient III-4. Probe AC003693 (blue) generated two chromosome signals in interphase (left) and metaphase (right) nuclei, whereas probe U90095 (red) generated one chromosome signal in interphase and metaphase nuclei. A pair of spots was scored as one signal, since it represents the two sister chromatids after S phase. Interphase nuclei and chromosomes were counterstained with DAPI. One hundred interphase and metaphase nuclei were analyzed, 90 and 85 of which, respectively, showed similar patterns to those described above. LIT1 is deleted in individuals II-2 and III-4. C, Real-time mRNA expression analysis of p57KIP2 and LIT1 in deletion carriers. Values represented are the average input amount of p57KIP2, normalized to the average input amount of the β-glucuronidase (GUS) gene in triplicate samples, compared with age-matched normal lymphocyte controls; and the average input amount of LIT1, normalized to the average input amount of the β-actin gene in triplicate samples, compared with normal lymphoblastoid controls. The housekeeping gene chosen for normalization in cases was the gene with the least variance among eight control samples. p57KIP2 expression is decreased in the proband (III-4), and LIT1 expression is absent in the mother (II-2).

Emily L. Niemitz, et al. Am J Hum Genet. 2004 November;75(5):844-849.

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