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31.
Molecular Genetics of Cystinuria: Identification of Four New Mutations and Seven Polymorphisms, and Evidence for Genetic Heterogeneity 总被引:3,自引:2,他引:1 下载免费PDF全文
Paolo Gasparini Maria Julia Calonge Luigi Bisceglia Jesus Purroy Irma Dianzani Angelo Notarangelo Ferran Rousaud Michele Gallucci Xavier Testar Alberto Ponzone Xavier Estivill Antonio Zorzano Manuel Palacin Virginia Nunes Leopoldo Zelante 《American journal of human genetics》1995,57(4):781-788
A cystinuria disease gene (rBAT) has been recently identified, and some mutations causing the disease have been described. The frequency of these mutations has been investigated in a large sample of 51 Italian and Spanish cystinuric patients. In addition, to identify new mutated alleles, genomic DNA has been analyzed by an accurate and sensitive method able to detect nucleotide changes. Because of the lack of information available on the genomic structure of rBAT gene, the study was carried out using the sequence data so far obtained by us. More than 70% of the entire coding sequence and 8 intron-exon boundaries have been analyzed. Four new mutations and seven intragenic polymorphisms have been detected. All mutations so far identified in rBAT belong only to cystinuria type I alleles, accounting for ~44% of all type I cystinuric chromosomes. Mutation M467T is the most common mutated allele in the Italian and Spanish populations. After analysis of 70% of the rBAT coding region, we have detected normal sequences in cystinuria type II and type III chromosomes. The presence of rBAT mutated alleles only in type I chromosomes of homozygous (type I/I) and heterozygous (type I/III) patients provides evidence for genetic heterogeneity where rBAT would be responsible only for type I cystinuria and suggests a complementation mechanism to explain the intermediate type I/type III phenotype. 相似文献
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Allen J. St. Angelo Robert L. Ory Falk R. Rittig 《Journal of Plant Growth Regulation》1984,3(1-4):183-187
Peanut,Arachis hypogaea, plants were treated in the field with the bioregulator BAS 105 00W, 4-chloro-5-dimethylamino-2-phenylpyridazin-3-one, a substituted pyridazinone, at different times of development. The seeds were harvested, dried, hand-shelled, and analyzed for lipoxygenase activity and conjugated diene hydroperoxide content. Reduced lipoxygenase activity occurred when the bioregulator was applied to the plants at flowering and pegging. The conjugated diene hydroperoxide content decreased the most in peanuts when the bioregulator was applied at pegging. The apparent Km for lipoxygenase of treated peanuts with linoleic acid as substrate was the same as that for untreated peanuts. 相似文献
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Robert P. Casey Clemens Broger Marcus Thelen Angelo Azzi 《Journal of bioenergetics and biomembranes》1981,13(5-6):219-228
We report here studies which characterize further the interaction ofN,N-dicyclohexylcarbodiimide with cytochromec oxidase leading to inhibition of H+ translocation by the enzyme. Further evidence is presented to show that the inhibition results from a real interaction of DCCD with the enzyme and cannot be accounted for by uncoupling and, contrary to recent criticisms, this interaction occurs specifically with subunit III of the enzyme even at relatively high inhibitor-to-enzyme stoichiometries. Use of a spin-label analogue of DCCD has enabled us to demonstrate that the carbodiimide-binding site is highly apolar and may not lie on the pathway of electron transfer.Abbreviations DCCD
N,N-dicyclohexylcarbodiimide
- NCCD
N-(2, 2, 6, 6-tetramethylpiperidyl-1-oxyl)-N-(cyclohexyl)carbodiimide
- Hepes
2-(N-2-hydroxyethylpiperazin-N-yl) ethane sulfonate
- TMPD
N,N,N,N-tetramethylphenylenediamine 相似文献
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Janet Nilsson Valsa Mannickarottu Celina Edelstein Angelo M. Scanu 《Analytical biochemistry》1981,110(2):342-348
Starting from a single-spin ultracentrifugation procedure described previously (Foreman et al., J. Lipid Res. 18, 759, 1977), we have improved the system for detection of the fractions eluted from the gradient by monitoring them continuously at 280 nm. A graphic display readily permits assessment of the distribution of the lipoproteins and their quantification with the aid of a computer program. By the use of appropriate factors, one can convert absorbance readings into actual lipoprotein values which correspond well (±7% for low-density lipoproteins and ±5% for high-density lipoproteins) to those obtained by means of chemical analyses. The examples provided indicate the versatility of the method and its sensitivity (down to 0.1 ml of serum). 相似文献
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Angelo Viotti Norberto E. Pogna Cecilia Balducci Mauro Durante 《Molecular & general genetics : MGG》1980,178(1):35-41
Summary In order to localize the genes coding for zein, the major storage protein of maize endosperm, zein 125I-mRNA and 3H-cDNA labelled at high specific activity were used for in situ hybridization on heterozygous interchanges and paracentric inversions of the KYS strain of Zea mays. The analysis of the diplotene-metaphase I microsporocytes indicated the presence of zein structural genes on the long arm of chromosomes 4 and 5, the short arm of chromosome 7 and the distal segment of the long arm of chromosome 10. The two hybridization sites on chromosomes 7 and 10 are found near opaque-2 and opaque-7 loci which are known to regulate zein synthesis. The present data are discussed in relation to results obtained by other authors using genetical mapping of zein genes. 相似文献