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- Buckley, Patrick G, et al.
(författare)
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A full-coverage, high-resolution human chromosome 22 genomic microarrayfor clinical and research applications
- 2002
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Ingår i: Human Molecular Genetics. - : Oxford University Press (OUP). - 0964-6906 .- 1460-2083. ; 11:25, s. 3221-3229
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Tidskriftsartikel (refereegranskat)abstract
- We have constructed the first comprehensive microarray representing a human chromosome for analysis of DNA copy number variation. This chromosome 22 array covers 34.7 Mb, representing 1.1% of the genome, with an average resolution of 75 kb. To demonstrate the utility of the array, we have applied it to profile acral melanoma, dermatofibrosarcoma, DiGeorge syndrome and neurofibromatosis 2. We accurately diagnosed homozygous/heterozygous deletions, amplifications/gains, IGLV/IGLC locus instability, and breakpoints of an imbalanced translocation. We further identified the 14-3-3 eta isoform as a candidate tumor suppressor in glioblastoma. Two significant methodological advances in array construction were also developed and validated. These include a strictly sequence defined, repeat-free, and non-redundant strategy for array preparation. This approach allows an increase in array resolution and analysis of any locus; disregarding common repeats, genomic clone availability and sequence redundancy. In addition, we report that the application of phi29 DNA polymerase is advantageous in microarray preparation. A broad spectrum of issues in medical research and diagnostics can be approached using the array. This well annotated and gene-rich autosome contains numerous uncharacterized disease genes. It is therefore crucial to associate these genes to specific 22q-related conditions and this array will be instrumental towards this goal. Furthermore, comprehensive epigenetic profiling of 22q-located genes and high-resolution analysis of replication timing across the entire chromosome can be studied using our array.
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| 2. |
- Nilsson, Gunilla, et al.
(författare)
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Patients' experiences of illness, operation and outcome with reference to gastro-oesophageal reflux disease.
- 2002
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Ingår i: Journal of Advanced Nursing. - : Wiley. - 0309-2402 .- 1365-2648. ; 40:3, s. 307-15
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Tidskriftsartikel (refereegranskat)abstract
- BACKGROUND: Describing the illness-story from a patient perspective could increase understanding of living with a chronic disease for health professionals and others, facilitate decision-making about treatment and enhance information about the outcome from a patient perspective. AIM: To illuminate patients' illness experiences of having a gastro-oesophageal reflux disease (GORD), going through surgery and the outcome. METHODS: Twelve patients were interviewed 5 years after having had the operation; six patients had had fundoplication via laparoscopy and six via open surgery. Each patient was asked to talk openly about their experiences, thoughts, feelings and consequences of living with the illness, going through surgery and the period from surgery to the day of interview. A qualitative content analysis was performed concerning the context of the data and its meaning. FINDINGS: Three central categories were identified and nine subcategories: living with GORD- symptoms of the disease affecting daily living, taking medicines, work, family and social life; concerns related to surgery- decision-making about the operation, influence by physicians; life after the operation- outcomes and consequences, side-effects and complications of the operation, sick leave, information and sharing experiences with future patients. All patients were free from symptoms of the illness after surgery independent of type of surgery, but side-effects from surgical treatment varied individually. Interviewees would have liked information concerning side-effects after surgery from previous patients. CONCLUSIONS: This study contributes to knowledge about patients' long-term suffering, their control of symptoms and how they have tried to cure themselves, but also about their concerns about surgery and the importance of surgical treatment to their quality of life. They wanted information about treatment, outcome and consequences, not only from a health care perspective but also from previous patients having had the same treatment.
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