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Histochemistry and Cell Biology - Serial sections from araldite-embedded rat and man pancreata were investigated immunohistochemically for the presence of prodynorphin-related peptides and...  相似文献   
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In this report we describe the first patient ever found to have azoospermia in association with both exceptional complex chromosomal rearrangements and microdeletions at two translocation breakpoints. A 36-year-old male who had been suffering from male factor infertility was admitted to our clinic. The patient also displayed mild dysmorphia. An analysis of the patient's semen revealed azoospermia. GTG banding revealed the presence of an exceptional complex chromosomal rearrangement involving chromosomes 1, 4, 10 and 14. Using subtelomeric FISH analysis, the patient's karyotype was designated as 46,XY,t(1;10)(q43q44;q21q26.1)(CEB108/T7+,D1S3738-;10PTEL006+,D10S2290+, D1S3738+), ins(14;4) (q31.3;q23q33)(D14S1420+; D4S3359+, D4S2930+). Array-CGH analysis revealed two microdeletions at the 4q22.3q23 and 14q31.1q31.3 chromosomal regions. We suggest that microdeletions at the 4q22.3q23 and 14q31.1q31.3 chromosomal regions associated with both an exceptional complex chromosomal rearrangement and the Homo sapiens chromosome 4 open reading frame 37 (C4orf37) gene located at the 4q22.3q23 region might be associated with male factor infertility.  相似文献   
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Complex chromosomal rearrangements are very rare chromosomal abnormalities. Individuals with a complex chromosomal rearrangement can be phenotypically normal or display a clinical abnormality. It is believed that these abnormalities are due to either microdeletions or microduplications at the translocation breakpoints or as a result of disruption of the genes located in the breakpoints. In this study we describe a 2-year-old child with mental retardation and developmental delay in whom a de novo apparently balanced exceptional complex chromosomal rearrangement was found through conventional cytogenetic analysis. Using both cytogenetic and FISH analysis, the patient's karyotype was found to be: 46,XY,der(5)t(5;7)(p15.1;7q34),t(5;8)(q13.1;8q24.1)dn. A large, clinically significant deletion which encompassed 887.69 kb was detected at the 5q12.1–5q12.3 (chr5:62.886.523–63.774.210) genomic region using array-CGH. This deleted region includes the HTR1A and RNF180 genes. This is the first report of an individual with an apparently balanced complex chromosomal rearrangement in conjunction with a microdeletion at 5q12.1–5q12.3 in which there are both mental-motor retardation and dysmorphia.  相似文献   
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A Gram-positive, moderately halotolerant, rod-shaped, spore forming bacterium, designated strain FJAT-14515T was isolated from a soil sample in Cihu area, Taoyuan County, Taiwan. The strain grew at 10–35 °C (optimum at 30 °C), pH 5.7–9.0 (optimum at pH 7.0) and at salinities of 0–5 % (w/v) NaCl (optimum at 1 % w/v). The diagnostic diamino acid of the peptidoglycan of the isolated strain was meso-diaminopimelic acid and major respiratory isoprenoid quinone was MK-7. Major cellular fatty acids were anteiso-C15:0 (40.6 %), iso-C15:0 (20.7 %) and the DNA G+C content of strain FJAT-14515T was 37.1 mol %. A phylogenetic analysis based on 16S rRNA gene sequences indicated that strain FJAT-14515T belongs to the genus Bacillus, and was most closely related to the reference strains of Bacillus muralis DSM 16288T (97.6 %) and Bacillus simplex DSM 1321T (97.5 %). Levels of DNA–DNA relatedness between strain FJAT-14515T and the reference strains of B. muralis DSM 16288T and B. simplex DSM 1321T were 27.9 % ± 3.32 and 44.1 % ± 0.57, respectively. Therefore, on the basis of phenotypic, chemotaxonomic and genotypic properties, strain FJAT-14515T represents a novel species of the genus Bacillus, for which the name Bacillus cihuensis sp. nov. is proposed. The type strain is FJAT-14515T (=DSM 25969T = CGMCC 1.12697T).  相似文献   
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A Bacillus-like isolate, strain FJAT-13831T, isolated from the No. 1 pit soil of Emperor Qin’s Terra-cotta Warriors in Xi’an City, China, was studied to determine its taxonomic status. Dominant fatty acids of this organism included iso-C15:0, iso-C17:0, C16:0, iso-C13:0, anteiso-C15:0, and iso-C17:1ω5c. Comparative 16S rRNA gene sequence analysis confirmed the affiliation of this isolate to the genus Bacillus and indicated that it was closely related to Bacillus pseudomycoides DSM 12442T (99.72 % similarity). A phylogenetic analysis of the gyrB gene sequence similarities exhibited independent clustering of the isolate FJAT-13831T and showed 93.8 % (<95 %) sequence similarity with its closest phylogenetic neighbour B. pseudomycoides DSM 12442T. Separate standing of the strain FJAT-13831T was supported by a whole genome-based phylogenetic analysis with an average nucleotide identity value of 91.47 (<95 %) between isolate FJAT-13831T and B. pseudomycoides DSM 12442T and was consistent with the results of DNA–DNA hybridization (69.1 % relatedness). These findings support the conclusion that the isolate FJAT-13831T represents a novel species, for which the name Bacillus bingmayongensis sp. nov. is proposed. The type strain is FJAT-13831T (= CGMCC 1.12043T = DSM 25427T).  相似文献   
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