Molecular Analysis of TSC2/PKD1 Contiguous Gene Deletion Syndrome
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概要
- 論文の詳細を見る
Background: Tuberous sclerosis complex (TSC) is an autosomal dominant disordercaused by mutations in either of two genes, TSC1 and TSC2. Autosomal dominantpolycystic kidney disease (ADPKD) is caused by mutations in either PKD1 or PKD2.TSC2 lies immediately adjacent to PKD1 and large heterozygous deletions can result inthe TSC2/PKD1 contiguous gene syndrome (PKDTS). PKDTS has been identified inpatients with TSC and early-onset severe ADPKD. However, genetic diagnosis withconventional methods proved to be difficult because its genetic aberrations are largemonoallelic mutations. Methods: In the study presented here, we used both multiplexligation-dependent probe amplification (MLPA) and array comparative genomichybridization (array-CGH) for four PKDTS patients. Results: We were able to detectlarge heterozygous deletions including TSC2 and PKD1 by both of MLPA andarray-CGH in all four patients. And in two patients, array-CGH identified relativelylarge genomic aberrations (RAB26, NTHL1, etc.), that extended outside of TSC2 orPKD1. Conclusion: The identical results obtained with these two completely differentmethods show that both constitute highly reliable strategies. Only a few studies havedetermined the breakpoints of large deletions in this disease and ours is the first to have identified the breakpoints by using array-CGH. We suggest that these methods are notonly useful for the diagnosis of PKDTS but also for elucidation of its molecularmechanism.
- 神戸大学の論文
- 2011-00-00
著者
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Iijima Kazumoto
Department Of Nephrology National Center For Child Health And Development
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Nozu Kandai
Department Of Pediatrics Kobe University Graduate School Of Medicine
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Matsuo Masafumi
Department Of Pediatrics Graduate School Of Medicine Kobe University
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Nakao Hideto
Department Of Neonatology Hyogo Children's Hospital Perinatal Center
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Sekine Takashi
Department Of Applied Chemistry Tokyo Metropolitan University
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Oyazato Yoshinobu
Department Of Clinical Evaluation Of Pediatrics Kobe University Graduate School Of Medicine
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Kamei Koichi
Department of Nephrology, National Center for Child Health and Development
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Emi Mitsuru
CNV laboratory, DNA Chip Research Institute
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Takanashi Junichi
Department of Pediatrics, Kameda Medical Center
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Namai Yoshiyuki
Department of Pediatrics, Ohta Nishinouchi General Hospital
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MATSUO Masafumi
Department of Medical Rehabilitation, Faculty of Rehabilitation, Kobegakuin University
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Iijima Kazumoto
Department of Pediatrics, Kobe University Graduate School of Medicine
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Sekine Takashi
Department of Pediatrics, Toho University Ohashi Medical Center
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Oyazato Yoshinobu
Department of Pediatrics, Kobe University Graduate School of Medicine
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Nakao Hideto
Department of Neonatology, Hyogo Prefectural Kobe Children's Hospital
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