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Cytosine-5 methylation of genomic DNA. a: Genomic Southern blot of control and patient (P1, P2) DNA. Radioactively labeled satellite II specific oligonucleotide was used as probe. Position of fragment size markers of 23, 4, and 2 kb are indicated. H, (HpaII) methylation sensitive and M, (MspI) methylation-insensitive restriction enzyme isoschizomeres. b: Fluorescence image of ethidium bromide stained agarose gel. Lambda DNA restricted with HindIII was used as size marker.

Cytosine-5 methylation of genomic DNA. a: Genomic Southern blot of control and patient (P1, P2) DNA. Radioactively labeled satellite II specific oligonucleotide was used as probe. Position of fragment size markers of 23, 4, and 2 kb are indicated. H, (HpaII) methylation sensitive and M, (MspI) methylation-insensitive restriction enzyme isoschizomeres. b: Fluorescence image of ethidium bromide stained agarose gel. Lambda DNA restricted with HindIII was used as size marker.

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The ICF syndrome (immunodeficiency, centro-meric instability, facial anomalies) (OMIM# 242860) is a rare autosomal, recessively inherited disorder. Another rare condition, ischiadic hypo-plasia, renal dysgenesis, immunodeficiency, and polydactyly (IHRDIP, OMIM#243340), displays features that resemble those of the ICF syndrome. Due to the overlappin...

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Context 1
... blots showed a series of five prominent DNA fragments within the molecular size range of 1.8-6 kb (kilo base) when genomic DNA was restricted with the methylation- insensitive enzyme MspI and probed with a satellite II-specific oligonucleotide (Fig. 3a). When the same genomic DNA samples were restricted with the methyl-sensitive isoschizo- mere HpaII, these fragments did not appear, as expected, in the control, but were present in Patients 1 and 2, although in different intensities. According to these results, hypomethylation in Patient 2 may be more severe compared to Patient 1, a ...
Context 2
... correlates with the different frequencies of chromosomal aberrations in both patients (Table I). This hypomethylation did not affect the entire genome since restriction with HpaII yielded mostly uncut DNA migrating around the 23 kb size marker while MspI restriction resulted in a continuous smear of fragments across the length of the agarose gel (Fig. ...

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