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111.
112.
Tomomi Hidaka Masao Goda Tomohisa Kuzuyama Naomi Takei Makoto Hidaka Haruo Seto 《Molecular & general genetics : MGG》1995,249(3):274-280
The biosynthetic pathway for production of the antibiotic fosfomycin by Streptomyces wedmorensis consists of four steps including the formation of a C-P bond and an epoxide. Fosfomycin production genes were cloned from genomic DNA using S. wedmorensis mutants blocked at different steps of the biosynthetic pathway. Four genes corresponding to each of the biosynthetic steps were found to be clustered in a DNA fragment of about 5 kb. Nucleotide sequencing of a large fragment revealed the presence of ten open reading frames, including the four biosynthetic genes and six genes with unknown functions. 相似文献
113.
Vincent Delpizzo 《Bioelectromagnetics》1995,16(2):132-142
A computer program simulating case-control studies is described. It is used to estimate the minimum sample size required and to assess how this is affected by imprecise exposure assessment. In particular, the consequences of neglecting measurements of nonresidential exposure in case-control studies of residentially exposed adults are investigated. According to this model, while the consequent loss of power is not as large as was predicted by algebraic methods, it would be unwise to neglect it when planning a study. © 1995 Wiley-Liss, Inc. 相似文献
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116.
Shunji Tomatsu Seiji Fukuda Alan Cooper James E. Wraith Atsushi Uchiyama Toshinori Hori Yoshinori Nakashima Naoto Yamada Kazuko Sukegawa Naomi Kondo Yasuyuki Suzuki Nobuyuki Shimozawa Tadao Orii 《Human genetics》1995,95(4):376-381
Ninety-six alleles (36 alleles of Japanese and 60 of Caucasian origin) from forty-eight patients with mucopolysaccharidosis IVA were investigated for structural gene alterations using Southern blot analysis. All patients had a previously demonstrated deficiency of N-acetylgalactosamine-6-sulfate-sulfatase and exhibited a wide spectrum of clinical severity. Initially, using the fulllength cDNA as a probe, five of 36 chromosomes from the Japanese patients revealed similar rearrangements with respect to DNA digested with BamHI, SacI, and XhoI. Subsequent analysis using seven genomic fragments, covering the entire gene, enhanced the detection of aberrant fragments produced by the above restriction enzymes. Conversely, the 60 chromosomes of Caucasian origin revealed no evidence of large structural rearrangements when analyzed by these methods. There was a statistically significant difference between the two populations (P < 0.01). A severely affected Japanese patient showed structural rearrangements on both chromosomes by means of BamHI blots. An 8.0-kb fragment and a highly polymorphic 7.0-kb to 11.0-kb fragment present in normal individuals disappeared and two aberrant fragments of 11.5 kb and 12.0 kb were observed. Three other Japanese patients also showed these two aberrant fragments, in addition to the normal fragment pattern, and were thus heterozygous for this rearrangement. Interpretation of Southern blots was difficult because of the complexity of polymorphic bands resulting from variable number of tandem repeat elements. However, by utilizing these aberrant fragments or polymorphic bands, carrier detection was effective, even in families with poorly characterized mutations. Hybridization with probe MG-A (5end genomic probe in intron 1) showed a 8.4-kb fragment in BamHI blots of one Japanese and one Caucasian patient; XhoI, SacI, and EcoRI blots were normal. Since this BamHI alteration was also observed in one normal control, it appears to be a rare nonpathological polymorphism. 相似文献
117.
Catherine M. Phelan Lu Liu Martin H. Ruttledge Kristina Müntzning Per-Åke Ridderheim Vincent P. Collins 《Human genetics》1995,96(6):684-690
Central nervous system (CNS) tumours are the most common solid tumours in children. Cytogenetic and molecular genetic studies of these neoplasms have previously shown abnormalities of chromosome 17, implicating genes on this autosome in tumorigenesis. To identify mutations in the TP53 tumour suppressor gene (17p13.1), we have sequenced the five highly conserved regions of this gene in 29 mixed paediatric CNS tumors. No mutations were detected by this analysis. In order to identify other candidate disease loci on chromosome 17, we have carried out a detailed deletion mapping analysis using 16 polymorphic DNA markers on 19 of the above tumours and an additional four cases. Abnormalities of chromosome 17 occurred in nine cases (39%), six of which were primitive neuroectodermal tumour (PNET)-medulloblastomas. These findings suggest that it is unlikely that the TP53 gene is directly involved in the development of common paediatric brain tumours. This is in contrast to findings from adult brain and other tumour types. Moreover, the frequency of chromosome 17 aberrations, especially in PNET-medulloblastomas, suggests that other genes on this chromosome contribute to tumourigenesis. 相似文献
118.
Hideki Iwata Shunji Tomatsu Seiji Fukuda Atsushi Uchiyama G. M. M. Rezvi Tatsuya Ogawa Toshinori Hori Yoshihiro Nakashima Atsushi Yamagishi Kazuko Sukegawa Nobuyuki Shimozawa Yasuyuki Suzuki Naomi Kondo Tadao Orii 《Human genetics》1995,95(3):257-264
Seven different restriction fragment length polymorphisms (RFLPs) at the N-acetylgalactosamine-6-sulfate sulfatase (GALNS) locus were analyzed using Southern blotting and polymerase chain reaction based techniques to search for the frequency of each RFLP produced by StyI, SphI, HaeIII, StuI, HapII, XhoI, and BamHI restriction endonucleases, respectively, in 36 mutant alleles, including two sibling cases and 100 normal alleles. Calculation of heterozygosity indexes showed that these RFLPs were polymorphic, ranging from 0.31 to 0.69 in mucopolysaccharidosis IVA (MPS IVA) patients compared with 0.21 to 0.65 in normal individuals. There was some significant difference in several RFLPs and in the combination with four kinds of RFLPs (SphI, StuI, HapII, XhoI polymorphisms). The normal alleles were composed of 13 different RFLPs haplotypes; the most common among the Japanese population carrying normal alleles was haplotype 8 (bDEF1) (31.3%), the others being dispersed. The same haplotype 8 was the most frequent in the mutant alleles (44.4%), with seven further haplotypes. These findings revealed the striking variety of polymorphic haplotypes in the MPS IVA gene. By using these five kinds of RFLPs, we examined the theoretical informativity of haplotype analysis in heterozygote detection in nine unrelated MPS IVA families and ten unrelated normal families. All the members of the MPS IVA families studied were diagnosed as a patient, carrier, or noncarrier. We propose that prenatal diagnosis or family analysis in cases in which mutations have not been characterized is now feasible. 相似文献
119.
The -acetolactate synthase from Leuconostoc mesenteroides subsp. cremoris was purified to homogeneity in SDS-PAGE. The enzyme is a trimer of 3×55,000 Da. It was unstable but could be preserved by addition of pyruvate and thiamine pyrophosphate in the buffer. The enzyme exhibits Michaelis-Menten kinetics, and K
m for pyruvate is 10 mM. Three intermediates in glucose metabolism (ATP, 3-phosphoglycerate, and phosphoenolpyruvate) exhibit a noncompetitive inhibition towards the enzyme. This enzyme does not require any divalent metal ion for activity. The -acetolactate synthase from Leuconostoc mesenteroides subsp. cremoris is not inhibited by the branched-chain amino acids (valine, leucine, and isoleucine), is FAD independent, and displays an optimal activity at pH 5.3. Therefore, it can be concluded that the purified enzyme belongs to the catabolic -acetolactate synthases, involved in the 2,3-butanediol pathway but not in branchedchain amino acids biosynthesis. 相似文献
120.
Amanda C. J. Vincent Anders Berglund Ingrid Ahnesjö 《Environmental Biology of Fishes》1995,44(4):347-361
Synopsis Synopsis Pipefishes have rarely been watched in the wild and have never before been followed in their common seagrass habitats. This study explores the reproductive ecology of five species of pipefishes living in a Swedish eelgrass meadow during parts of four breeding seasons, tagging four of the species. Pipefish are remarkable for their specialised paternal care: only males aerate, osmoregulate and nourish the developing embryos. Two of the species (Entelurus aequoreus andNerophis ophidion) have simple ventral gluing of eggs on the trunk while three species (Syngnathus acus, S. rostellatus andS. typhle) have fully enclosed brood pouches on their tails. Males of the former species receive eggs from one female while males of the genusSyngnathus receive partial clutches from several females. Sex ratios of adults on the site differed from equal to male-biased to female-biased, according to species.S. typhle were most numerous and were resighted most often. They were present throughout the breeding season whereas there were temporal shifts in the presence of the other species on the meadow and in some sex ratios. Most species occurred in the deeper, denser part of the meadow but there was some habitat separation by species and sex. All species tended to stay low in the eelgrass, primarily coming up above the eelgrass to display and mate. No species showed site fidelity either to a home range or to the meadow, withE. aequoreus adults spending least time on the meadow. Sexual size dimorphism differed: males were larger inS. rostellatus, the same size inS acus and smaller in the other species. Although the species overlap in habitat requirements and breeding season, the only observed interspecific interactions were abortive courtships betweenSyngnathus species. 相似文献