Molecular genetic analysis

N-Terminal sequencing and mass spectrometry analysis of the purified nitrilase from F. solani 01 revealed four peptide fragments that were identical to those of a putative nitrilase from Gihherdla moniliformis (anamorph Fusarium vetiicittioides) 

Cyanide dihydratases are also HCN specific, but differ in the reaction mechanism, which leads to formate. Their phylogenetic distribution is also different these enzymes occur in bacteria, for instance. Bacillus pumilus [21] or Pseudomonas 

FK WSI.ANSPV.NAA-HZME.FX. A.L6DVKY..S-FTSR.H. A.IGDVKWAVSDFZP..H HZ.VDSPLAGMAXFAVR.H -M..R.. 

EYXQDVDI..SS..SIFPQNVPE WPYHITPECCKAFSHWSM.GACFV.LAS.IM.E.NH.KANVD.—YDYTKKSGG.FSM. 

SIFPENSDQ-WPYHITPNCCKAFSHIVSM.GACFVILSS. XL.. . NFEKANVK.—FDYTKN6GG. FTM. 

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Mattes TE, NV Coleman, JC Spain, JM Gossett (2005) Physiological and molecular genetic analysis of vinyl chloride and ethene biodegradation in Nocardioides sp. strain JS614. Archiv Microbiol 183 95-106. 

FI 1. Fujii, H., and Miwa, S., Recent progress in the molecular genetic analysis of erythroenzy-mopathy. Am. J. Hematol. 34,301-310 (1990). 

Chappie, C. (1998) Molecular-genetic analysis of plant cytochrome P450-dependent monooxygenases. Annual Review of Plant Physiology and Plant Molecular Biology, 49, 311-343. 

Scott, J.C., Stefaniak, J., Pawlowski, Z.S. and McManus, D.P. (1997) Molecular genetic analysis of human cystic hydatid cases from Poland identification of a new genotypic group (G9) of Echinococcus granulosus. Parasitology 114, 37-43. 

Xia X, Bollinger J, Orgam A (1995) Molecular genetic analysis of the response of three soil microbial communities to the application of 2, 4-D. Mol Ecol 4 17-28... 

Defects of complex II. These have not been fully characterized in the few reported patients, and the diagnosis has often been based solely on a decrease of succinate-cytochrome c reductase activity (Fig. 42-3). However, partial complex II deficiency was documented in muscle and cultured fibroblasts from two sisters with clinical and neuroradiological evidence of Leigh s syndrome, and molecular genetic analysis showed that both patients were homozygous for a point mutation in the flavoprotein subunit of the complex [17]. This was the first documentation of a molecular defect in the nuclear genome associated with a respiratory chain disorder. 

Hayward, C., et al., "Molecular Genetic Analysis of the APEX Nuclease Gene in Amyotrophic Lateral Sclerosis," Neurology, 52, 1899-1901 (1999). 

Hattori, N., Kitada, T., Matsumine, H., Asakawa, S., Yamamura, Y., et al. 1998. Molecular genetic analysis of a novel Parkin gene in Japanese families with autosomal recessive juvenile parkinsonism evidence for variable homozygous deletions in the Parkin gene in affected individuals. Ann Neurol 44 935-41. Hershko, A., Ciechanover, A. 1998. The ubiquitin system. Anna Rev Biochem 67 425-79... 

Fish odour syndrome is an autosomal recessive disease. Mutations have been found in the FM03 gene. Molecular genetic analysis can therefore be used as a diagnostic test. Many pathogenic mutations have been described. The defect should be documented in patients with trimethylaminuria at the metabolite level and the diagnosis confirmed at the molecular genetic level. This chapter describes the available tests at the metabolite level. 

Chen C. and Tonegawa S. (1997). Molecular genetic analysis of synaptic plasticity, activity-dependent neural development, learning, and memory in the mammalian brain. Annu. Rev. Neurosci. 20 157-184. 

Cruts M, Backhovens J, Wang S-Y, et al. 1995. Molecular genetic analysis of familial early-onset Alzheimer s disease linked to chromosome 14q24.3. Hum Mol Gen 4 2363-2371. 

It is well established that mitochondrial function defects are not severe until the proportion of mutant mtDNA reaches a high level, which forms the basis of the concept of the threshold effect. In skeletal muscle, the level of the A3243G mutation is related to the severity of strokelike episodes, epilepsy, and dementia in patients with MELAS syndrome (C6, H14, PI). Similarly, the level of the A8344G mutation is correlated with the degree of cerebellar ataxia and myoclonus in patients with MERRF syndrome (C6). Thus, molecular genetic analysis of mtDNA mutations in muscle biopsies usually provides more definitive diagnosis of... 

JA Boyd National Institute of Environmental Health Sciences (NIEHS Perform a molecular genetic analysis of pathologic conditions of the human uterus, resulting from exposure to chemicals such as 2,3,7,8-TCDD ... 

Kato C, Nakano Y, Lis M, Kuramitsu HK (1992) Molecular genetic analysis of the catalytic site of Streptococcus mutans glucosyltransferases. Biochem Biophys Res Commun 189 1184-1188... 

Viswanathan, C. and Zhu, J.K., 2002, Molecular genetic analysis of cold-regulated gene transcription. Phil. Trans. Roy. Soc. Lond. B 357 877-886. 

Analysis of urine for excess substrates (e.g., glycosaminoglycans in the Mucopolysaccharidoses, globotriaolsylceramide in Fabry disease) may also suggest the presence of an LSD. In any case, all patients suspected to have an LSD should have diagnostic confirmation by means of biochemical and/or molecular genetic analysis. 

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