Gly71Arg mutation of the bilirubin UDP-glucuronosyltransferase 1A1 gene is associated with neonatal hyperbilirubinemia in the Japanese population
スポンサーリンク
概要
- 論文の詳細を見る
The serum bilirubin level of Japanese newborn infants in their first few days is significantly higher than that in Caucasian newborn infants, suggesting that there might be genetic risk factors for the development of neonatal hyperbilirubinemia in the Japanese population. Recently, it has been reported that a variant TATA box in the promoter region of the bilirubin UDP-glucuronosyltransferase 1 (UGT1A1) gene is associated with the development of neonatal hyperbilirubinemia. This finding led us to the idea that a mutation, glycine to arginine at codon 71 (G71R), in the coding region of the UGT1A1 gene can cause neonatal hyperbilirubinemia. In this study, we determined the genotypic distribution of the G71R mutation in 72 Japanese newborn infants: 23 infants with hyperbilirubinemia and 49 infants without hyperbilirubinemia. In the hyperbilirubinemia group, 15 of 23 newborn infants had the G71R mutation (3 homozygotes and 12 heterozygotes), whereas in the non-hyperbilirubinemia group 16 of 49 newborn infants had the G71R mutation (1 homozygote and 15 heterozygotes). Therefore, the G71R mutation was present significantly more frequently in the hyperbilirubinemia group than in the non-hyperbilirubinemia group. This finding strongly suggests that the presence of the G71R mutation contributes to the development of neonatal hyperbilirubinemia in the Japanese population.
- 神戸大学の論文
著者
-
YOKOYAMA Naoki
Fujitsu Laboratories Ltd.
-
Nishio Hisahide
神戸大学医学系研究科
-
Yokoyama Naoki
Department of Pediatrics, Kobe University Graduate School of Medicine
-
Nakamura Hajime
神戸大学医学部
-
Nakamura Hajime
Hyogo Prefectural Kobe Children's Hospital
-
Nishio Hisahide
Department Of Genetic Epidemiology Graduate School Of Medicine Kobe University
-
Nishio Hisahide
Department Of Pubic Health And Genetic Epidemiology Kobe University Graduate School Of Medicine
-
Yokoyama N
Fujitsu Laboratories Ltd.
-
Nakamura H
Hyogo Prefectural Kobe Children's Hospital
-
Yamamoto Akiyo
神戸大学医学系研究科
-
Waku Shozo
神戸大学医学系研究科
-
Yokoyama Naoki
神戸大学医学系研究科
-
Yonetani Masahiko
神戸大学医学系研究科
-
Uetani Yoshiyuki
神戸大学医学系研究科
-
Nishio H
Department Of Public Health Kobe University Graduate School Of Medicine
-
Nakamura Hajime
神戸大学医学系研究科
-
Yonetani M
Kobe Univ. Graduate School Of Medicine Kobe Jpn
-
Yokoyama Naoki
Institute For Nano Quantum Information Electronics The University Of Tokyo
-
Nakamura Hajime
Department Of Development And Aging Faculty Of Medicine Kobe University Graduate School Of Medicine
関連論文
- Novel Mutations in 21 Patients with Tuberous Sclerosis Complex and Variation of Tandem Splice-acceptor Sites in TSC1 exon 14
- ベトナム人脊髄性筋萎縮症患者におけるSMN2遺伝子量ならびにNAIP遺伝子量について
- Deletion of the SMN1 and NAIP Genes in Vietnamese Patients with Spinal Muscular Atrophy
- Molecular Genetic Analyses of Five Vietnamese Patients with Spinal Musucular Atrophy
- First Demonstration of Electrically Driven 1.55μm Single-Photon Generator
- Single-photon generator for telecom applications
- Development of Electrically Driven Single-Photon Emitter at Optical Fiber Bands
- Single-Photon Generation in the 1.55-μm Optical-Fiber Band from an InAs/InP Quantum Dot
- Non-classical Photon Emission from a Single InAs/InP Quantum Dot in the 1.3-μm Optical-Fiber Band
- Complete skipping of exon 66 due to novel mutations of the dystrophin gene was identified in two Japanese families of Duchenne muscular dystrophy with severe mental retardation
- Phonon Assisted Tunneling and P/V-Ratio in a Magnetic Confined Quasi 0D InGaAs/InAlAs Resonant Tunneling Diode
- Size, density, and shape of InAs quantum dots in closely stacked multilayers grown by the Stranski-Krastanow mode
- Lattice Deformation and Ga Diffusion Concerning InAs Self-Assembled Quantum Dots on GaAs(100) as a Function of Growth Interruption Time
- InAs Self-Assembled Quantum Dots Coupled with GaSb Monolayer Quantum Well
- Quantum Dot Infrared Photodetector Using Modulation Doped InAs Self-Assembled Quantum Dots
- Effect of Size Fluctuations on the Photoluminescence Spectral Linewidth of Closely Stacked InAs Self-Assembled Quantum Dot Structures
- Crystallographic Properties of Closely Stacked InAs Quantum Dots Investigated by Ion Channeling
- Threading Dislocations in Multilayer Structure of InAs Self-Assembled Quantum Dots
- Dynamic Properties of InAs Self-Assembled Quantum Dots Evaluated by Capacitance-Voltage Measurements
- Interdiffusion between InAs Quantum Dots and GaAs Matrices
- Narrow Photoluminescemce Line Width of Closely Stacked InAs Self-Assembled Quantum Dot Structures
- Self-Formed InGaAs Quantum Dot Lasers with Multi-Stacked Dot Layer
- New Optical Memory Structure Using Self-Assembled InAs Quantum Dots
- Time-Resolved Study of Carrier Transfer among InAs/GaAs Multi-Coupled Quantum Dots
- Stacked InAs Self-Assembled Quantum Dots on (001) GaAs Grown by Molecular Beam Epitaxy
- InAs/GaAs Multi-Coupled Quantum Dots Structure Enabling High-Intensity, Near-1.3-μm Emission due to Cascade Carrier Tunneling
- Phonon Assisted Tunneling and Peak-to-Valley Ratio in a Magnetically Confined Quasi Zero Dimensional InGaAs/InAlAs Resonant Tunneling Diode
- InGaAs/GaAs Tetrahedral-Shaped Recess Quantum Dot (TSR-QD)Technology (Special Issue on Quantum Effect Devices and Their Fabrication Technologies)
- Stacked InAs Self-Assembled Quantum Dots on (001) GaAs Grown by Molecular Beam Epitaxy
- Novel InGaAs/GaAs Quantum Dot Structures Formed in Tetrahedral-Shaped Recesses on (111) B GaAs Substrate Using Metalorganic Vapor Phase Epitaxy
- Observation of Exciton Transition in 1.3-1.55μm Band from Single InAs/InP Quantum Dots in Mesa Structure
- チャイルドシート着用が新生児の呼吸循環機能に与える影響 : ベット状シートと椅子状シートの比較
- Quantum Dots Infrared Photodetector Using Modulation Doped InAs Self-Assembled Quantum Dots
- Carbon nanotube technologies for future ULSI via interconnects
- A Resonant-Tunneling Bipolar Transistor (RBT) : A New Functional Device with High Current Gain
- A New Functional, Resonant-Tunneling Hot Electron Transistor (RHET)
- A WSi/TiN/Au Gate Self-Aligned GaAs MESFET with Selectively Grown n^+-Layer using MOCVD
- Tunneling Hot Electron Transistor Using GaAs/AlGaAs Heterojunctions
- The C677T Mutation in the Methylenetetrahydrofolate Reductase Gene among the Indonesian Javanese Population
- HnRNP C1/C2 May Regulate Exon 7 Splicing in the Spinal Muscular Atrophy Gene SMN1
- 良性家族性新生児痙攣を有する日本人一家系内の生殖細胞に生じたKCNQ2遺伝子変異(p. R213W)
- Ureaplasma urealyticum and Mycoplasma hominis Presence in Umbilical Cord is Associated with Pathogenesis of Funisitis
- Quantification of lysophosphatidylcholines and phosphatidylcholines using liquid chromatography-tandem mass spectrometry in neonatal serum
- Evaluation of mutation effects on UGT1A1 activity toward 17β-estradiol using liquid chromatography-tandem mass spectrometry
- Transmission Experiment of Quantum Keys over 50km Using High-Performance Quantum-Dot Single-Photon Source at 1.5μm Wavelength
- Prenatal diagnosis of a Japanese family at risk for tay-sachs disease : application of a fluorescent competitive allele-specific polymerase chain reaction (pcr) method
- タイ国のGilbert症候群患者姉妹のUGT1A1遺伝子に認められた新しいミスセンス異変
- High Current Gain AlGaAs/GaAs Heterojunction Bipolar Transistors with Carbon-Doped Base Grown by Gas Source Molecular Beam Epitaxy Using Trimethylamine Alane as the Aluminum Source
- Carbon-Doped-Base AlGaAs/GaAs HBTs Grown by Gas-Source Molecular Beam Epitaxy Using Only Gaseous Sources
- Gas Source MBE Growth of GaAs/AlGaAs Heterojunction Bipolar Transistor with a Carbon Doped Base Using Only Gaseous Sources
- 新生児慢性肺疾患に対するデキサメサゾン療法が呼吸機能に及ぼす効果 : 病型別検討
- Selective Growth of GaAs by Pulsed-Jet Epitaxy (Special Issue on Heterostructure Devices and Epitaxial Growth Techniques)
- Near-1.3-μm High-Intensity Photoluminescence at Room Temperature by InAs/GaAs Multi-Coupled Quantum Dots
- Screening for G71R mutation of the UGT1A1 gene in the Javanese-Indonesian and Malay-Malaysian populations
- Electric Field Effect in LaTiO_3/SrTiO_3 Heterostructure
- Formation of Sb Nanocrystals in SiO_2 Film Using Ion Implantation Followed by Thermal Annealing
- Electric Field Effect in LaTiO_3/SrTiO_3 Heterostructure
- Low-Power, High-Speed Integrated Logic with GaAs MOSFET : B-1: GaAs IC
- Eyelid myoclonia with absences in monozygotic twins
- Clinical features of infants with subependymal germinolysis and choroid plexus cysts
- Evaluation of change of cerebral circulation by SpO_2 in preterm infants with apneic episodes using near infrared spectroscopy
- A novel cryptic exon in intron 3 of the dystrophin gene was incorporated into dystrophin mRNA with a single nucleotide deletion in exon 5
- Gly71Arg mutation of the bilirubin UDP-glucuronosyltransferase 1A1 gene is associated with neonatal hyperbilirubinemia in the Japanese population
- Molecular genetics of spinal muscular atrophy : contribution of the NAIP gene to clinical severity
- Oligonucleotides against a splicing enhancer sequence led to dystrophin production in muscle cells from a Duchenne muscular dystrophy patient
- Purine-rich exon sequences are not necessarily splicing enhancer sequence in the dystrophin gene
- End-tidal carbon monoxide is predictive for neonatal non-hemolytic hyperbilirubinemia
- Non-homologous recombination between Alu and LINE-1 repeats caused a 430-kb deletion in the dystrophin gene : a novel source of genomic instability
- A simple explanation for a case of incompatibility with the reading frame theory in Duchenne muscular dystrophy: failure to detect an aberrant restriction fragment in Southern blot analysis
- Vascular involvement in benign infantile mitochondrial myopathy caused by reversible cytochrobe c oxidase dificiency
- Severe neonatal nemaline myopathy with delayed maturation of muscle
- Classification of Congenital Hypothyroidism Based on Scintigraphy, Ultrasonography and the Serum Thyroglobulin Level
- Preventive effects of dexamethasone on hypoxic-ischemic brain damage in the neonatal rat
- Invited: GaAs X-Band Power FET : A-4: FIELD EFFECT TRANSISTORS (I)
- Two-Photon Control of Biexciton Population in Telecommunication-Band Quantum Dot
- Low-Temperature Synthesis of Graphene and Fabrication of Top-Gated Field Effect Transistors without Using Transfer Processes
- Improved Emitter-Base Junction with In_2O_3 in Dielectric-Base Transistor
- Growth of Epitaxial CeO_2 Films on (1012) Sapphire by Halide Source Plasma Enhanced Chemical Vapor Deposition
- Ramp-edge Josephson Junction with Indium-Tin-Oxide Barrier
- Liquid-Liquid Direct Contact Heat Exchange Using a Perfluorocarbon Liquid for Waste Heat Recovery : Heat Transfer Characteristics Obtained with Perfluorocarbon Droplets Descending in a Hot Water Medium
- Open-Base Multi-Emitter HBTs with Increased Logic Functions
- Quasi-One-Dimensional Channel GaAs/AlGaAs Modulation Doped FET Using a Corrugated Gate Structure : Special Section : Solid State Devices and Materials 2 : III-V Compound Semiconductors Devices and Materials
- A Static Random Access Memory Cell Using a Double-Emitter Resonant-Tunneling Hot Electron Transistor for Gigabit-Plus Memory Applications
- First-Principles Study of Electronic Properties in Si Lattice Matched SiGeC Alloy with a Low C Concentration
- Electron Spin Flip by Antiferromagnetic Coupling between Semiconductor Quantum Dots
- Effect of Silicon Doping Profile on I-V Characteristics of an AlGaAs/GaAs Resonant Tunneling Barrier Structure Grown by MBE
- Serum KL-6 Level and Pulmonary Function in Preterm Infants with Chronic Lung Disease
- Selective Brain Hypothermia Protects against Hypoxic-Ischemic Injury in Newborn Rats by Reducing Hydroxyl Radical Production
- Evaluation of mutation effects on UGT1A1 activity toward 17β-estradiol using liquid chromatography–tandem mass spectrometry
- Effects of the Heating Rate in Alloying of An-Ge to n-Type GaAs on the Ohmic Properties
- A High-Speed Josephson Latching Driver for a Superconducting Single-Flux-Quantum System to Semiconductor System Interface
- Fabrication of a Tantalum-Based Josephson Junction for an X-Ray Detector
- Additivity of the Quantized Conductance of Multiple Parallel Quantum Point Contacts
- A surviving case of papillorenal syndrome with the phenotype of Potter sequence
- Quantum Dot Infrared Photodetector Using Modulation Doped InAs Self-Assembled Quantum Dots
- Development of Electrically Driven Single-Quantum-Dot Device at Optical Fiber Bands
- Non-classical Photon Emission from a Single InAs/InP Quantum Dot in the 1.3-μm Optical-Fiber Band
- Si Quantum Dot Formation with Low-Pressure Chemical Vapor Deposition
- Stacked InAs Self-Assembled Quantum Dots on (001) GaAs Grown by Molecular Beam Epitaxy
- Electron Spin Flip by Antiferromagnetic Coupling between Semiconductor Quantum Dots