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101.
S. Yu J. Mulley D. Loesch G. Turner A. Donnelly A. Gedeon D. Hillen E. Kremer M. Lynch M. Pritchard G. R. Sutherland R. I. Richards 《American journal of human genetics》1992,50(5):968-980
The fragile site at Xq27.3 is an unstable microsatellite repeat, p(CCG)n. In fragile-X syndrome pedigrees, this sequence exhibits variable amplification, the length of which correlates with fragile-site expression. There is a direct relationship between increased p(CCG)n copy number and propensity for instability: individuals having large amplifications exhibit somatic variation due to increased instability. The instability of the p(CCG)n repeat, when transmitted through affected pedigrees, explains the unusual segregation patterns of fragile-X phenotype, referred to as the Sherman paradox. All individuals of fragile-X genotype were found (where testing was possible) to have a parent with amplified p(CCG)n repeat, indicating that few, if any, cases of fragile-X syndrome are not familial. 相似文献
102.
The effect of iron on anaerobic digestion 总被引:1,自引:0,他引:1
Summary The ability of methanogenic bacteria to adapt to high concentrations of iron was investigated using a 9l Upflow Anaerobic Sludge Blanket (UASB) reactor fed semi-continuously with a synthetic waste containing glucose as the organic carbon source. It was found that an iron concentration of up to 5 650 mg/l, which is well in excess of previously reported toxicity levels, had no inhibitory effects on anaerobic digestion, with the exception of a decrease in biogas production. The iron precipitated out and accumulated in the sludge bed of the digester, resulting in very low concentrations of iron in the digester effluent. 相似文献
103.
Laboratory microcosms were used to: i) measure the effects of soil moisture on survival of Steinernema riobravis and ii) investigate the suitability of using microcosms to study motility and survival of these nematodes. Nematodes recovered from soil contained in petri dishes declined by more than 95% during 7 days, whereas nematodes recovered from the inner surfaces of dishes increased 35-fold. After 7 days in dishes, >20 times as many nematodes were recovered from dish surfaces than from soil. Nematodes exhibited a negative geotropism; greater numbers of nematodes were recovered from the lid surfaces than from the surfaces of dishes. Survivorship of nematodes in soil in plastic centrifuge tubes was somewhat greater than in petri dishes, and fewer nematodes ascended above the soil line in tubes than dishes. Downward migration of nematodes was inversely related to soil column diameter, possibly due to relatively unimpeded movement along container surfaces. An assay was developed by which nematodes were rinsed from the inner surfaces of centrifuge tubes into the soil. The resulting slurry was then processed on Baermann trays to recover motile nematodes. Nematode survival in soil in centrifuge tubes was higher at soil moistures between 2-4% than at lower (0.5-1.0%) and higher (4.0-12.0%) moisture levels. Survival of S. riobravis may be enhanced by quiescence induced by moisture deficits. 相似文献
104.
105.
106.
HT29-18N2 differentiation in a protein-free medium 总被引:1,自引:0,他引:1
107.
R H Duncan Lyngdoh 《Journal of biosciences》1994,19(2):131-143
Loss of Watson-Crick protons following DNA base alkylation has been proposed as a key event which confers mutation-inducing
properties on to alkylated DNA bases. In this theoretical study, the promutagenic O6-guanine and O4-thymine sites are clearly distinguished from the nonmutagenic N7-guanine site on the basis of calculated values of mechanistic indicators for Watson-Crick proton acidity following alkylation
at these respective sites. The degree of acidity predicted for these protons for each type of alkylated base accords well
with the presence or absence of mutagenicity observed experimentally in each case. 相似文献
108.
109.
Molecular characterization of the marker chromosome associated with cat eye syndrome. 总被引:8,自引:2,他引:6
A. J. Mears A. M. Duncan M. L. Budarf B. S. Emanuel B. Sellinger J. Siegel-Bartelt C. R. Greenberg H. E. McDermid 《American journal of human genetics》1994,55(1):134-142
Cat eye syndrome (CES) is associated with a supernumerary bisatellited marker chromosome which is derived from duplicated regions of 22pter-22q11.2. In this study we have used dosage and RFLP analyses on 10 CES patients with marker chromosomes, by using probes to five loci mapped to 22q11.2. The sequences recognized by the probes D22S9, D22S43, and D22S57 are in four copies in all patients, but the sequences at the more distal loci, D22S36 and D22S75, are duplicated only in some individuals. D22S36 is present in three copies in some individuals, and D22S75 is present in two copies in the majority of cases. Only three individuals have a duplication of the most distal locus examined (D22S75), and these individuals have the largest marker chromosomes identified in this study. From the dosage analysis it was found that the marker chromosomes are variable in size and can be asymmetric in nature. There is no obvious correlation between the severity of the phenotype and the size of the duplication. The distal boundary of the CES critical region (D22S36) is proximal to that of DiGeorge syndrome, a contiguous-gene-deletion syndrome of 22q11.2. 相似文献
110.
Cross-flow microfiltration was shown to retain Saccharomyces cerevisiae biomass utilized for heavy metal bioaccumulation. The passage of metal-laden influent through a series of sequential bioaccumulation systems allowed for further reductions in the levels of copper, cadmium, and cobalt in the final effluent than that afforded by a single bioaccumulation process. Serial bioaccumulation systems also allowed for partial separation of metals from dual metal influents. More than one elemental metal cation could be accumulated simultaneously and in greater quantities than when a single metal was present in the effluent (Cu(2+) 0.43 mmol, Cu(2+) + Cd(2+) 0.67 mmol, and Cu(2+) + Co(2+) 0.83 mmol/g yeast dry mass when the initial concentration of each of the metal species was 0.2 mmol.L(-1)). Co-accumulation of two different metal cations allowed higher total levels of bioaccumulation than found with a single metal. The flux rate was 2.9 x 10(2) L.h(-2)mum(-2) using a polypropylene microfiltration membrane (0.1 mum pore size) at 25 degrees C. (c) 1994 John Wiley & Sons, Inc. 相似文献