Preliminary Experiment on the Plasma Confinement in the Heliotron Field with Buried Ring Conductors

In order to restore the plasma stability in the Heliotron C magnetic field, the Heliotron-P field, which has buried ring conductors inside the vacuum vessel and thus avoids the cusp losses, has been proposed. As a preliminary experiment on the plasma confinement in this field, the plasma behaviour in a mirror field having a current carrying ring conductor, which corresponds to the one section of the Heliotron-P field, is investigated. The plasma injected from a gun into this field rapidly fills up the region near the separatrix showing the existence of the magnetic well. The plasma ( Tₑ≃20 eV, Tₑ≤11 eV, n?10¹1) is stably confined in this field. The predominant loss is the mirror end loss, and the net radial loss time is inferred to be 1.4 msec. Drift instability is observed only in the region of the steep density gradient at the plasma periphery

Identification of a single base insertion in the COL4A5 gene in Alport syndrome

Identification of a single base insertion in the COL4A5 gene in Alport syndrome. We identified a novel mutation in the COL4A5 gene of a Japanese patient with Alport syndrome. A combination of in vitro amplification of the exons with single strand conformation polymorphisms (SSCP) analysis suggested the presence of a mutation in exon 48. Sequencing of the amplified DNA revealed a single base (T) insertion which was between nucleotides T 4750 and G 4751 within the methionine 1516. This mutation caused a shift in the reading frame of nine amino acids and introduced a premature termination signal that would be expected to lack about two-thirds of the noncollagenous (NCI) domain. This mutation may interfere with type IV collagen assembly leading to increased permeability and play a causative role in the glomerular basement membrane abnormality of this patient with typical Alport syndrome. Gene tracking by restriction enzyme NlaIII digestion revealed that the patient's mother is heterozygous whereas the patient's brother and one sister are normal, albeit they have hematuria and proteinuria. Without gene analysis, they would have been misdiagnosed. We propose that the diagnosis of Alport syndrome should be made on the basis of both clinical phenotypes and molecular defects

トカマクソウチノミダレジバガプラズマトジコメジバオヨビプラズマトジコメ ニオヨボスエイキョウ

京都大学0048新制・論文博士工学博士乙第3492号論工博第1027号新制||工||389(附属図書館)5363UT51-52-N133(主査)教授 宇尾 光治, 教授 飯吉 厚夫, 教授 秋宗 秀夫学位規則第5条第2項該当Kyoto UniversityDA

Mutations in the COL4A5 gene in Alport syndrome: A possible mutation in primordial germ cells

Mutations in the COL4A5 gene in Alport syndrome: A possible mutation in primordial germ cells. Using a combination of gene amplification with single strand conformation polymorphisms analysis and sequencing, we examined the COL4A5 gene in 37 patients with Alport syndrome. In patient A8, a single base insertion was noted at codon 1,597 tyrosine in exon 49. The premature terminal signal appeared and 89 amino acids (approximately one-third) of the non-collagenous domain were lost. The mutation was present in the mother, hence she is heterozygous. In patient A12, the nucleotide changed from C to T at codon 1,679 glutamine in exon 51, which created a termination codon, and 7 amino acids at the carboxyl terminus were lost. Gene tracking using peripheral leukocytes revealed that the parents did not carry the mutant allele, while the sister was heterozygous. DNA samples from hair roots and skin fibroblasts of the mother were normal and immunological examination of the epidermis of the mother indicated that the α5(IV) chain was normally expressed. As these results suggest that somatic cells of the mother do not carry the mutant allele, the primordial germ cells possibly carry a fresh mutation in the mother of patient A12

新しい細菌,ウレアーゼ陽性高温性カンピロバクターのゲノムDNA上の多遺伝子配列情報に基づく分子識別 ; recA遺伝子の解析

本研究においてデザインされた,recA遺伝子のほぼ全長に渡る領域を増幅するためのPCRプライマーを用いて得られたPCR産物の配列情報は,UPTC及び他の高温性カンピロバクターのDNAレベルでの分子識別に大変有用であることが強く示唆された。更に,本研究の主目的であるUPTCのゲノムDNA上の多遺伝子配列情報に基づく分子識別にrecA遺伝子を対象とすることは極めて有用であることが初めて明らかとなった。In the present study, for the first time, nucleotide sequencing after TA cloning of almost the full-length (about 1,050 bp in length) of the recA gene of two isolates of UPTC, NCTC12894 and CF89-12 and a strain of C. lari JCM2530T amplified using a degenerate primer pair was carried out. Nucleotide sequence comparison analysis of the possible open reading frame (ORF) demonstrated that the two isolates of UPTC showed about 94% sequence homology of the recA gene to each other and that they also showed 90-92% and about 84% homology of the recA gene to C. lari and C. jejuni, respectively. The two isolates of UPTC showed 50-60% homology of the recA gene to the other family Enterobacteriaceae. In conclusion, this study presents novel sequence data on recA for C. lari and UPTC, which may aid in the phylogenetic positioning of the UPTC group within the genus Campylobacter and may aid in the discriminating of isolates of the UPTC group