Results 281 to 290 of about 188,397 (314)

Point mutation analysis of archived cytogenetic slide DNA

Cytogenetics and Cell Genetics, 2008
Archived Giemsa-stained cytogenetic slide repositories represent valuable DNA resources for medical, scientific, and forensic studies. Sequencing readily identified a Charcot-Marie-Tooth disease point mutation in a 209-bp PCR amplified product. With optimal PCR primers and amplification conditions, our protocol quickly and reliably isolated sufficient ...
H, Sago, J D, Goldberg, R V, Lebo
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DNA sequence analysis of prm− mutations of coliphage lambda

Gene, 1980
Nucleotide sequence changes associated with mutation of the prm promoter of bacteriophage lambda have been determined. Prm-mutations have been assigned to two classes. Class I mutations appear to affect the interaction of RNA polymerase with prm; six class I mutations affect four sites, located 14, 33, 38, and 39 bp preceding the prm transcription ...
E D, Rosen, J L, Hartley, K, Matz, B P, Nichols, K M, Young, J E, Donelson, G N, Gussin   +6 more
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DNA Mutation Analysis in Heterotaxy

2006
Heterotaxy refers to the abnormal arrangement of internal organs in relation to each other. It is characterized by complex cardiac malformations that are thought to result from abnormal left-right patterning in early embryonic development. Mutations in four genes have been identified in human heterotaxy. ZIC3, a zinc finger transcription factor, causes
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Analysis of the Hb M Milwaukee mutation at the DNA level

British Journal of Haematology, 1983
Summary. Restriction endonuclease mapping of cellular DNA with the enzyme Sst I has been used to detect the haemoglobin (Hb) Milwaukee mutation directly. Instead of a normal 15.5 kilobase pairs (kb) fragment which contains the normal β‐globin structural genes, in heterozygous Hb M Milwaukee DNA two additional fragments of 9.0 kb and 6.5 kb were ...
J, Horst, R, Schäfer, E, Kleihauer, E, Kohne   +3 more
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DNA microarray analysis of fim mutations in Escherichia coli

Molecular Genetics and Genomics, 2002
Bacterial adhesion is often mediated by complex polymeric surface structures referred to as fimbriae. Type 1 fimbriae of Escherichia coli represent the archetypical and best characterised fimbrial system. These adhesive organelles mediate binding to D-mannose and are directly associated with virulence in the urinary tract.
Schembri, M. A., Ussery, D. W., Workman, C., Hasman, H., Klemm, P.   +4 more
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Analysis of Mutation Mechanisms in Human Mitochondrial DNA

Molecular Biology, 2005
The cause of the high variability of human mitochondrial DNA (mtDNA) remains largely unknown. Three mechanisms of mutagenesis that might account for the generation of nucleotide substitutions in mtDNA have been analyzed: deamination of DNA nitrous bases caused by deamination agents, tautomeric proton migration in nitrous bases, and the hydrolysis of ...
I. V. Kornienko, B. A. Malyarchuk
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Improved Detection of the Sickle Mutation by DNA Analysis

New England Journal of Medicine, 1982
DETECTION of sickle hemoglobin in the human fetus was first accomplished nearly 10 years ago.1 , 2 This marked the beginning of a technology for prenatal diagnosis of the hemoglobinopathies.
S H, Orkin, P F, Little, H H, Kazazian, C D, Boehm   +3 more
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Are somatic mitochondrial DNA mutations relevant to our health? A challenge for mutation analysis techniques

Expert Opinion on Medical Diagnostics, 2007
A role of somatic mitochondrial (mt)DNA mutations in ageing and degenerative diseases was postulated decades ago, but this hypothesis remains untested. A substantial number of genetically engineered 'mutator' mouse lines with increased mtDNA mutation rates were expected to test the hypothesis.
Yevgenya, Kraytsberg, Alexander, Nicholas, Konstantin, Khrapko   +2 more
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Analysis of mutations at the DNA repair genes in acute childhood leukaemia

British Journal of Haematology, 1998
Deficiency in DNA repair capability is considered to be responsible for oncogenesis. Hereditary and sporadic cancers in various tissues have been reported to have mutations at the DNA repair genes. In this study we analysed two excision repair genes (ERCC1 and XPCC) and two mismatch repair genes (hMSH2 and hMTH1) in the leukaemic blasts of newly ...
Y W, Lin, M, Kubota, S, Koishi, M, Sawada, I, Usami, K, Watanabe, Y, Akiyama   +6 more
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DNA mutation detection and analysis using miniaturized microfluidic systems

Expert Review of Molecular Diagnostics, 2006
Identification of genetic sequence variations occurring on a population-wide scale is key to unraveling the complex interactions that are the underlying cause of many medical disorders and diseases. A critical need exists, however, for advanced technology to enable DNA mutation analysis to be performed with significantly higher throughput and at ...
Maria I, Handal, Victor M, Ugaz
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