BIOMAT Database Logo BIOMAT Database Logo

A Dde I RFLP in exon 21 of human EL1 gene, encoding protein 4.1, detectable by SSCP. 1998

P Maillet, and N Dalla Venezia, and M Bozon, and A Vallier, and J Delaunay, and F Baklouti
Génétique Moléculaire Humaine, CNRS URA 1171, Institut Pasteur de Lyon, France.

Protein 4.1 is a major component of the junctional complex at the red cell skeleton. Genomic studies have recently evidenced that the encoding gene (EL1 locus) is present in a single copy per haploid genome. Several RFLPs have already been characterized within intron sequences. Here, we describe the first RFLP found within the coding sequence. This polymorphism (C or T at position 2723, in exon 21) does not affect the amino acid sequence (Thr-->Thr). It can be detected by either Dde I restriction digestion of an appropriate PCR product, or simply by SSCP These findings should facilitate analysis of families with 4.1 deficiencies causing hereditary elliptocytosis.

UI MeSH Term Description Entries
D008565 Membrane Proteins Proteins which are found in membranes including cellular and intracellular membranes. They consist of two types, peripheral and integral proteins. They include most membrane-associated enzymes, antigenic proteins, transport proteins, and drug, hormone, and lectin receptors. Cell Membrane Protein,Cell Membrane Proteins,Cell Surface Protein,Cell Surface Proteins,Integral Membrane Proteins,Membrane-Associated Protein,Surface Protein,Surface Proteins,Integral Membrane Protein,Membrane Protein,Membrane-Associated Proteins,Membrane Associated Protein,Membrane Associated Proteins,Membrane Protein, Cell,Membrane Protein, Integral,Membrane Proteins, Integral,Protein, Cell Membrane,Protein, Cell Surface,Protein, Integral Membrane,Protein, Membrane,Protein, Membrane-Associated,Protein, Surface,Proteins, Cell Membrane,Proteins, Cell Surface,Proteins, Integral Membrane,Proteins, Membrane,Proteins, Membrane-Associated,Proteins, Surface,Surface Protein, Cell
D009479 Neuropeptides Peptides released by NEURONS as intercellular messengers. Many neuropeptides are also hormones released by non-neuronal cells. Neuropeptide
D012150 Polymorphism, Restriction Fragment Length Variation occurring within a species in the presence or length of DNA fragment generated by a specific endonuclease at a specific site in the genome. Such variations are generated by mutations that create or abolish recognition sites for these enzymes or change the length of the fragment. RFLP,Restriction Fragment Length Polymorphism,RFLPs,Restriction Fragment Length Polymorphisms
D003598 Cytoskeletal Proteins Major constituent of the cytoskeleton found in the cytoplasm of eukaryotic cells. They form a flexible framework for the cell, provide attachment points for organelles and formed bodies, and make communication between parts of the cell possible. Proteins, Cytoskeletal
D005091 Exons The parts of a transcript of a split GENE remaining after the INTRONS are removed. They are spliced together to become a MESSENGER RNA or other functional RNA. Mini-Exon,Exon,Mini Exon,Mini-Exons
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000483 Alleles Variant forms of the same gene, occupying the same locus on homologous CHROMOSOMES, and governing the variants in production of the same gene product. Allelomorphs,Allele,Allelomorph
D001483 Base Sequence The sequence of PURINES and PYRIMIDINES in nucleic acids and polynucleotides. It is also called nucleotide sequence. DNA Sequence,Nucleotide Sequence,RNA Sequence,DNA Sequences,Base Sequences,Nucleotide Sequences,RNA Sequences,Sequence, Base,Sequence, DNA,Sequence, Nucleotide,Sequence, RNA,Sequences, Base,Sequences, DNA,Sequences, Nucleotide,Sequences, RNA
D015252 Deoxyribonucleases, Type II Site-Specific Enzyme systems containing a single subunit and requiring only magnesium for endonucleolytic activity. The corresponding modification methylases are separate enzymes. The systems recognize specific short DNA sequences and cleave either within, or at a short specific distance from, the recognition sequence to give specific double-stranded fragments with terminal 5'-phosphates. Enzymes from different microorganisms with the same specificity are called isoschizomers. EC 3.1.21.4. DNA Restriction Enzymes, Type II,DNase, Site-Specific, Type II,Restriction Endonucleases, Type II,Type II Restriction Enzymes,DNase, Site Specific, Type II,Deoxyribonucleases, Type II, Site Specific,Deoxyribonucleases, Type II, Site-Specific,Site-Specific DNase, Type II,Type II Site Specific DNase,Type II Site Specific Deoxyribonucleases,Type II Site-Specific DNase,Type II Site-Specific Deoxyribonucleases,Deoxyribonucleases, Type II Site Specific,Site Specific DNase, Type II
D016133 Polymerase Chain Reaction In vitro method for producing large amounts of specific DNA or RNA fragments of defined length and sequence from small amounts of short oligonucleotide flanking sequences (primers). The essential steps include thermal denaturation of the double-stranded target molecules, annealing of the primers to their complementary sequences, and extension of the annealed primers by enzymatic synthesis with DNA polymerase. The reaction is efficient, specific, and extremely sensitive. Uses for the reaction include disease diagnosis, detection of difficult-to-isolate pathogens, mutation analysis, genetic testing, DNA sequencing, and analyzing evolutionary relationships. Anchored PCR,Inverse PCR,Nested PCR,PCR,Anchored Polymerase Chain Reaction,Inverse Polymerase Chain Reaction,Nested Polymerase Chain Reaction,PCR, Anchored,PCR, Inverse,PCR, Nested,Polymerase Chain Reactions,Reaction, Polymerase Chain,Reactions, Polymerase Chain

Related Publications

P Maillet, and N Dalla Venezia, and M Bozon, and A Vallier, and J Delaunay, and F Baklouti
Two RFLPs in the human protein 4.1 gene (EL1).
November 1991, Nucleic acids research,
P Maillet, and N Dalla Venezia, and M Bozon, and A Vallier, and J Delaunay, and F Baklouti
Dde I RFLP may falsify linkage analysis of hereditary retinoblastoma when using SSCP of p88PR0.6 region.
January 2000, Anticancer research,
P Maillet, and N Dalla Venezia, and M Bozon, and A Vallier, and J Delaunay, and F Baklouti
Rapid localization of membrane skeletal protein 4.1 (EL1) to human chromosome 1p33----p34.2 by nonradioactive in situ hybridization.
January 1991, Cytogenetics and cell genetics,
P Maillet, and N Dalla Venezia, and M Bozon, and A Vallier, and J Delaunay, and F Baklouti
SSCP polymorphism in exon 8B of the human G protein alpha O2 subunit (GNA01) gene.
August 1993, Human molecular genetics,
P Maillet, and N Dalla Venezia, and M Bozon, and A Vallier, and J Delaunay, and F Baklouti
Analysis of ELA-DQB exon 2 polymorphism in Argentine Creole horses by PCR-RFLP and PCR-SSCP.
August 2003, Journal of veterinary medicine. A, Physiology, pathology, clinical medicine,
P Maillet, and N Dalla Venezia, and M Bozon, and A Vallier, and J Delaunay, and F Baklouti
Detection of mutations of the RB1 gene in retinoblastoma patients by using exon-by-exon PCR-SSCP analysis.
May 1994, American journal of human genetics,
P Maillet, and N Dalla Venezia, and M Bozon, and A Vallier, and J Delaunay, and F Baklouti
Presence of a novel exon 2E encoding a putative transmembrane protein in human IL-33 gene.
January 2013, Biochemical and biophysical research communications,
P Maillet, and N Dalla Venezia, and M Bozon, and A Vallier, and J Delaunay, and F Baklouti
Taq I RFLP in the human cellular retinol-binding protein (CRBP) gene.
August 1988, Nucleic acids research,
P Maillet, and N Dalla Venezia, and M Bozon, and A Vallier, and J Delaunay, and F Baklouti
Polymorphism in exon 4a of the human GLUT4/ muscle-fat facilitative glucose transporter gene detected by SSCP.
August 1991, Nucleic acids research,
P Maillet, and N Dalla Venezia, and M Bozon, and A Vallier, and J Delaunay, and F Baklouti
A Fok I PCR-RFLP in exon 2 of the pig alpha 2,6-sialyltransferase (SIAT1) gene.
December 1999, Animal genetics,
Copied contents to your clipboard!