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Identification of n...
Identification of novel deletion breakpoints bordered by segmental duplications in the NF1 locus using high resolution array-CGH.
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- Mantripragada, K K (author)
- Uppsala universitet,Institutionen för genetik och patologi
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- Thuresson, Ann-Charlotte (author)
- Uppsala universitet,Medicinsk genetik
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- Piotrowski, A (author)
- Uppsala universitet,Institutionen för immunologi, genetik och patologi
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- Díaz de Ståhl, T (author)
- Uppsala universitet,Institutionen för immunologi, genetik och patologi
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- Menzel, U (author)
- Uppsala universitet,Institutionen för immunologi, genetik och patologi
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- Grigelionis, G (author)
- Uppsala universitet,Institutionen för immunologi, genetik och patologi
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Ferner, R E (author)
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Griffiths, S (author)
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Bolund, L (author)
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Mautner, V (author)
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- Nordling, Margareta, 1962 (author)
- Gothenburg University,Göteborgs universitet,Institutionen för biomedicin, avdelningen för medicinsk genetik och klinisk genetik,Institute of Biomedicine, Department of Medical and Clinical Genetics
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Legius, E (author)
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Vetrie, D (author)
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- Dahl, Niklas (author)
- Uppsala universitet,Medicinsk genetik
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Messiaen, L (author)
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Upadhyaya, M (author)
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Bruder, C E G (author)
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- Dumanski, Jan P (author)
- Uppsala universitet,Medicinsk genetik
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(creator_code:org_t)
- 2005-05-27
- 2006
- English.
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In: Journal of medical genetics. - : BMJ. - 1468-6244 .- 0022-2593. ; 43:1, s. 28-38
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Abstract
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- BACKGROUND: Segmental duplications flanking the neurofibromatosis type 1 (NF1) gene locus on 17q11 mediate most gene deletions in NF1 patients. However, the large size of the gene and the complexity of the locus architecture pose difficulties in deletion analysis. We report the construction and application of the first NF1 locus specific microarray, covering 2.24 Mb of 17q11, using a non-redundant approach for array design. The average resolution of analysis for the array is approximately 12 kb per measurement point with an increased average resolution of 6.4 kb for the NF1 gene. METHODS: We performed a comprehensive array-CGH analysis of 161 NF1 derived samples and identified heterozygous deletions of various sizes in 39 cases. The typical deletion was identified in 26 cases, whereas 13 samples showed atypical deletion profiles. RESULTS: The size of the atypical deletions, contained within the segment covered by the array, ranged from 6 kb to 1.6 Mb and their breakpoints could be accurately determined. Moreover, 10 atypical deletions were observed to share a common breakpoint either on the proximal or distal end of the deletion. The deletions identified by array-CGH were independently confirmed using multiplex ligation-dependent probe amplification. Bioinformatic analysis of the entire locus identified 33 segmental duplications. CONCLUSIONS: We show that at least one of these segmental duplications, which borders the proximal breakpoint located within the NF1 intron 1 in five atypical deletions, might represent a novel hot spot for deletions. Our array constitutes a novel and reliable tool offering significantly improved diagnostics for this common disorder.
Keyword
- Chromosome Breakage
- Chromosome Mapping
- Chromosomes
- Human
- Pair 17
- genetics
- Computational Biology
- DNA Mutational Analysis
- Gene Deletion
- Gene Duplication
- Humans
- Neurofibromin 1
- genetics
- Oligonucleotide Array Sequence Analysis
- Reproducibility of Results
Publication and Content Type
- ref (subject category)
- art (subject category)
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- By the author/editor
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Mantripragada, K ...
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Thuresson, Ann-C ...
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Piotrowski, A
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Díaz de Ståhl, T
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Menzel, U
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Grigelionis, G
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show more...
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Ferner, R E
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Griffiths, S
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Bolund, L
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Mautner, V
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Nordling, Margar ...
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Legius, E
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Vetrie, D
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Dahl, Niklas
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Messiaen, L
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Upadhyaya, M
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Bruder, C E G
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Dumanski, Jan P
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show less...
- Articles in the publication
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Journal of medic ...
- By the university
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University of Gothenburg
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Uppsala University