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High resolution deletion breakpoint mapping in the DMD gene by whole cosmid hybridization.

ABSTRACT: The locus DXS269 (P20) defines a deletion hotspot in the distal part of the Duchenne Muscular Dystrophy gene. We have cloned over 90 kilobase-pairs of genomic DNA from this region in overlapping cosmids. The use of whole cosmids as probes in a competitive DNA hybridization analysis proves a fast and convenient method for identifying rearrangements in this region. A rapid survey of P20-deletion patients is carried out to elucidate the nature of the propensity to deletions in this region. Using this technique, deletion breakpoints are pinpointed to individual restriction fragments in patient DNAs without the need for tedious isolation of single copy sequences. Simultaneously, the deletion data yield a consistent restriction map of the region and permit detection of several RFLPs. A 176 bp exon was identified within the cloned DNA, located 3' of an intron exceeding 150 Kb in length. Its deletion causes a frameshift in the dystrophin reading frame and produces the DMD phenotype. This exon is one of the most frequently deleted exons in BMD/DMD patients and its sequence is applied in a pilot study for diagnostic deletion screening using Polymerase Chain Reaction amplification.

SUBMITTER: Blonden LA

PROVIDER: S-EPMC318183 | biostudies-other | 1989 Jul

REPOSITORIES: biostudies-other

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High resolution deletion breakpoint mapping in the DMD gene by whole cosmid hybridization.

Blonden L A LA den Dunnen J T JT van Paassen H M HM Wapenaar M C MC Grootscholten P M PM Ginjaar H B HB Bakker E E Pearson P L PL van Ommen G J GJ

Nucleic acids research 19890701 14

The locus DXS269 (P20) defines a deletion hotspot in the distal part of the Duchenne Muscular Dystrophy gene. We have cloned over 90 kilobase-pairs of genomic DNA from this region in overlapping cosmids. The use of whole cosmids as probes in a competitive DNA hybridization analysis proves a fast and convenient method for identifying rearrangements in this region. A rapid survey of P20-deletion patients is carried out to elucidate the nature of the propensity to deletions in this region. Using th ...[more]

PMID: 2569720

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Project description:BACKGROUND:Cardiovascular magnetic resonance (CMR) T1? mapping can be used to detect ischemic or non-ischemic cardiomyopathy without the need of exogenous contrast agents. Current 2D myocardial T1? mapping requires multiple breath-holds and provides limited coverage. Respiratory gating by diaphragmatic navigation has recently been exploited to enable free-breathing 3D T1? mapping, which, however, has low acquisition efficiency and may result in unpredictable and long scan times. This study aims to develop a fast respiratory motion-compensated 3D whole-heart myocardial T1? mapping technique with high spatial resolution and predictable scan time. METHODS:The proposed electrocardiogram (ECG)-triggered T1? mapping sequence is performed under free-breathing using an undersampled variable-density 3D Cartesian sampling with spiral-like order. Preparation pulses with different T1? spin-lock times are employed to acquire multiple T1?-weighted images. A saturation prepulse is played at the start of each heartbeat to reset the magnetization before T1? preparation. Image navigators are employed to enable beat-to-beat 2D translational respiratory motion correction of the heart for each T1?-weighted dataset, after which, 3D translational registration is performed to align all T1?-weighted volumes. Undersampled reconstruction is performed using a multi-contrast 3D patch-based low-rank algorithm. The accuracy of the proposed technique was tested in phantoms and in vivo in 11 healthy subjects in comparison with 2D T1? mapping. The feasibility of the proposed technique was further investigated in 3 patients with suspected cardiovascular disease. Breath-hold late-gadolinium enhanced (LGE) images were acquired in patients as reference for scar detection. RESULTS:Phantoms results revealed that the proposed technique provided accurate T1? values over a wide range of simulated heart rates in comparison to a 2D T1? mapping reference. Homogeneous 3D T1? maps were obtained for healthy subjects, with septal T1? of 58.0 ± 4.1?ms which was comparable to 2D breath-hold measurements (57.6 ± 4.7?ms, P?=?0.83). Myocardial scar was detected in 1 of the 3 patients, and increased T1? values (87.4 ± 5.7?ms) were observed in the infarcted region. CONCLUSIONS:An accelerated free-breathing 3D whole-heart T1? mapping technique was developed with high respiratory scan efficiency and near-isotropic spatial resolution (1.7 × 1.7 × 2?mm3) in a clinically feasible scan time of ~?6 mins. Preliminary patient results suggest that the proposed technique may find applications in non-contrast myocardial tissue characterization.

Dataset Information

High resolution deletion breakpoint mapping in the DMD gene by whole cosmid hybridization.

Publications

High resolution deletion breakpoint mapping in the DMD gene by whole cosmid hybridization.

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