Search results for "MUTATION"
showing 10 items of 2830 documents
Five Novel Mutations in F13B Gene Resulting in Mild FXIII Deficiency
2008
FXIII deficiency is a rare autosomal recessive disorder affecting approximately 1 out of 1–3 million inhabitants. The disease is characterized by bleeding, impaired wound repair and spontaneous abortions in females. Extracellular FXIII molecule has a tetramer structure composing of two catalytic A-subunits and two B-subunits that act as a carrier molecule. Based on genotype there are two types of FXIII deficiency: A-subunit deficiency (XIIIA) when mutations affect F13A gene and much rarely B-subunit deficiency (XIIIB) when mutations affect F13B gene. Both types result in absence of FXIII catalytical activity in plasma.
A New Mutation in the Ryanodine Receptor 2 Gene (RYR2 C2277R) as a Cause Catecholaminergic Polymorphic Ventricular Tachycardia
2015
123 MOLECULAR GENETIC ANALYSIS IN HUNTER DISEASE
1991
Clinical and biochemical studies have revealed a great phenotypic variability in mucopolysaccharidosis type II (Hunter disease), probably due to different mutations in the IDS gene that has been localized in Xq28. Using a cDNA probe containing almost the entire coding region of the human IDS gene, we performed a molecular analysis on 7 patients with Hunter disease. In one patient, a complete deletion of the IDS coding sequences was found. Another patient had structural alterations of the IDS gene including a partial deletion. In 5 patients, however, after restriction digestion of the DNA by PstI and TaqI and Southern hybridization with the IDS cDNA, the audiographic patterns obtained were s…
Germline JAK2 L611S mutation in a child with thrombocytosis
2018
Transglutaminase-1 and Bathing Suit Ichthyosis: Molecular Analysis of Gene/Environment Interactions
2009
New Foldback transposable element TFB1 found in histone genes of the midge Chironomus thummi
1990
A new Foldback transposable element (TFB1) has been found in the histone H1-H3 intergenic region in the midge Chironomus thummi thummi. TFB1 has long terminal inverted repeats, composed of short, degenerate subrepeats and is flanked by nine or ten base-pair “target site” duplications. TFB1 is present in at least two adjacent histone gene units in Ch. th. thummi, indicating a homogenization of histone gene repeats. The copy number and chromosomal distribution of TFB1 are different in the closely related subspecies Ch. th. thummi and Ch. th. piger, showing that amplification, elimination and transposition of TFB1 have occurred recently during evolution.
Demonstration that the Group II Intron from the Clostridial Conjugative Transposon Tn5397 Undergoes Splicing In Vivo
2001
Previous work has identified the conjugative transposon Tn5397 from Clostridium difficile. This element was shown to contain a group II intron. Tn5397 can be conjugatively transferred from C. difficile to Bacillus subtilis. In this work we show that the intron is spliced in both these hosts and that nonspliced RNA is also present. We constructed a mutation in the open reading frame within the intron, and this prevented splicing but did not prevent the formation of the circular form of the conjugative transposon (the likely transposition intermediate) or decrease the frequency of intergeneric transfer of Tn5397. Therefore, the intron is spliced, but splicing is not required for conjugation o…
Identification of Point Mutations in Genes Coding for tum-Antigens. A Step Towards the Understanding of Mouse and Human Tumor-Specific Transplantatio…
1989
Most experimental tumors induced with chemical carcinogens or UV radiation express individually specific transplantation antigens that elicit a T cell-mediated immune rejection in the syngeneic animals (Prehn and Main 1957; Klein et al. 1960; Kripke 1981; Uyttenhove et al. 1983). The characterization of these transplantation antigens has proved very difficult and several different approaches have been followed. One involves the search for specific antibodies to isolate the antigen by immunoprecipitation. Unfortunately, tumors seldom elicit antibodies directed against their specific transplantation antigens. One notable exception is UV-induced tumor 1591, and the molecules that were isolated…
Point Mutation Rate of Bacteriophage ΦX174
2009
Abstract The point mutation rate of phage ΦX174 was determined using the fluctuation test. After identifying the genetic changes associated with the selected phenotype, we obtained an estimate of 1.0 × 10−6 substitutions per base per round of copying, which is consistent with Drake's rule (0.003 mutations per genome per round of copying in DNA-based microorganisms).