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1.
S. Kleinle U. Wiesmann A. Superti-Furga S. Krähenbühl E. Boltshauser J. Reichen S. Liechti-Gallati 《Human genetics》1997,100(5-6):643-650
We used a strategy based on long PCR (polymerase chain reaction) for detection and characterization of mitochondrial DNA (mtDNA)
rearrangements in two patients with clinical signs suggesting Pearson syndrome and Kearns-Sayre syndrome (KSS), respectively,
and one patient with myopathic symptoms of unidentified origin. Mitochondrial DNA rearrangements were detected by amplification
of the complete mitochondrial genome (16.6 kb) using long PCR with primers located in essential regions of the mitochondrial
genome and quantified by three-primer PCR. Long PCR with deletion-specific primers was used for identification and quantitative
estimation of the different forms of rearranged molecules, such as deletions and duplications. We detected significant amounts
of a common 7.4-kb deletion flanked by a 12-bp direct repeat in all tissues tested from the patient with Pearson syndrome.
In skeletal muscle from the patient with clinical signs of KSS we found significant amounts of a novel 3.7-kb rearrangement
flanked by a 4-bp inverted repeat that was present in the form of deletions as well as duplications. In the patient suffering
from myopathic symptoms of unidentified origin we did not detect rearranged mtDNA in blood but found low levels of two rearranged
mtDNA populations in skeletal muscle, a previously described 7-kb deletion flanked by a 7-bp direct repeat and a novel 6.6-kb
deletion with no repeat. These two populations, however, were unlikely to be the cause of the myopathic symptoms as they were
present at low levels (10–40 ppm). Using a strategy based on screening with long PCR we were able to detect and characterize
high as well as low levels of mtDNA rearrangements in three patients.
Received: 10 March 1997 / Accepted: 20 May 1997 相似文献
2.
Continental‐scale macrofungal assemblage patterns correlate with climate,soil carbon and nitrogen deposition 下载免费PDF全文
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Nils Milman Niels Graudal Lillian Staub Nielsen Bjørn Mathiassen Palle Tauris Birgit Lund Jørgen Schøler Kristensen Kirsten Fenger 《Human genetics》1990,85(2):228-232
Summary Pedigree studies were performed based on one Faroese and four Danish probands with overt idiopathic hemochromatosis (IH). The study consisted of HLA typing and determination of biochemical iron status indicators (serum transferrin saturation, serum ferritin). In total, 130 persons were evaluated. The screening identified 6 homozygous (h/h) subjects with preclinical IH, 46 heterozygous (h/n), and 8 normal (n/n) subjects, while 39 subjects were classified as normal or heterozygous (n/h?). One family demonstrated both a homozygous x heterozygous as well as a heterozygous x heterozygous mating. Recombination between the HLA region and IH locus occurred possibly in three subjects in three different families. The significance of detailed screening in families with probands with IH is discussed. 相似文献
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Daniela Vullo Leo Syrjänen Marianne Kuuslahti Seppo Parkkila Claudiu T. Supuran 《Journal of enzyme inhibition and medicinal chemistry》2018,33(1):359-363
An anion inhibition study of the β-class carbonic anhydrase, AgaCA, from the malaria mosquito Anopheles gambiae is reported. A series of simple as well as complex inorganic anions, and small molecules known to interact with CAs were included in the study. Bromide, iodide, bisulphite, perchlorate, perrhenate, perruthenate, and peroxydisulphate were ineffective AgaCA inhibitors, with KIs?>?200?mM. Fluoride, chloride, cyanate, thiocyanate, cyanide, bicarbonate, carbonate, nitrite, nitrate, sulphate, stannate, selenate, tellurate, diphosphate, divanadate, tetraborate, selenocyanide, and trithiocarbonate showed KIs in the range of 1.80–9.46?mM, whereas N,N-diethyldithiocarbamate was a submillimolar AgaCA inhibitor (KI of 0.65?mM). The most effective AgaCA inhibitors were sulphamide, sulphamic acid, phenylboronic acid and phenylarsonic acid, with inhibition constants in the range of 21–84?µM. The control of insect vectors responsible of the transmission of many protozoan diseases is rather difficult nowadays, and finding agents which can interfere with these processes, as the enzyme inhibitors investigated here, may arrest the spread of these diseases worldwide. 相似文献
7.
Immunohistochemical and physiological studies on various insect photoreceptors have demonstrated that the Na,K-ATPase (sodium pump) is restricted to the nonreceptive nonmicrovillar area of the plasma membrane. Here, we examined the distribution of the Na,K-ATPase in photoreceptor cells of the superposition-type compound eye in the moth Manduca sexta. Using immunofluorescent and immunogold cytochemistry, we show that the Na,K-ATPase is localized to both the nonmicrovillar and the microvillar parts of the plasma membrane. Manduca photoreceptors thus deviate from the common concept that the sodium pump and the molecular components of the photoreceptive machinery reside on different domains of the plasma membrane. 相似文献
8.
Ralf J. Jäger Vincent R. Harley Rudolf A. Pfeiffer Peter N. Goodfellow Gerd Scherer 《Human genetics》1992,90(4):350-355
A familial mutation in SRY, the gene coding for the testis-determining factor TDF, was identified in an XY female with gonadal dysgenesis, her father, her two brothers and her uncle. The mutation consists of a T to C transition in the region of the SRY gene coding for a protein motif known as the high mobility group (HMG) box, a protein domain known to confer DNA-binding specificity on the SRY protein. This point mutation results in the substitution, at amino acid position 109, of a serine residue for phenylalanine, a conserved aromatic residue in almost all HMG box motifs known. This F109S mutation was not found in 176 male controls. When recombinant wildtype SRY and SRYF109S mutant protein were tested in vitro for binding to the target site AAC AAAG, no differences in DNA-binding activity were observed. These results imply that the F109S mutation either is a rare neutral sequence variant, or produces an SRY protein with slightly altered in vivo activity, the resulting sex phenotype depending on the genetic back-ground or environmental factors.This paper is dedicated by G. S. to Professor Ulrich Wolf on the occasion of his 60th birthday 相似文献
9.
X Y Wu Y-Y Linko J Seppälä M Leisola P Linko 《Journal of industrial microbiology & biotechnology》1998,20(6):328-332
The enzymatic synthesis of aromatic polyesters by direct polyesterification between a diacid and a diol is described. The
effects of the type of substrate, type and quantities of lipase, temperature, vacuum, and reaction time on the synthesis of
aromatic polyesters were studied in detail. Among three lipases investigated, only Novozym 435 worked well for aromatic polyester
synthesis. Temperature and vacuum played an important role in obtaining a high molar mass of the aromatic polyesters. Furthermore,
with isophthalic acid and 1,6-hexanediol as substrates, the mass average molar mass of the polyester obtained increased with
an increase in the lipase quantity up to 0.375 g (11.7%, w/w of total reactor contents). The mass average molar mass of the
polyester was as high as 50000 g mol−1 in 168 h, with a polydispersity of PD ≈ 1.4.
Received 27 January 1998/ Accepted in revised form 19 May 1998 相似文献
10.