A Dde I RFLP in exon 21 of human EL1 gene, encoding protein 4.1, detectable by SSCP.
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.
Maillet
P
P
Génétique Moléculaire Humaine, CNRS URA 1171, Institut Pasteur de Lyon, France.
Dalla Venezia
N
N
Bozon
M
M
Vallier
A
A
Delaunay
J
J
Baklouti
F
F
D000483:Alleles; D001483:Base Sequence; D003598:Cytoskeletal Proteins; D017931:DNA Primers / Q000235:genetics; D018076:DNA, Complementary / Q000235:genetics; D015252:Deoxyribonucleases, Type II Site-Specific; D005091:Exons; D006801:Humans; D008565:Membrane Proteins / Q000235:genetics*; D009479:Neuropeptides; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length; D018807:Polymorphism, Single-Stranded Conformational
D003598:Cytoskeletal Proteins; D017931:DNA Primers; D018076:DNA, Complementary; D008565:Membrane Proteins; D009479:Neuropeptides; C028841:erythrocyte membrane band 4.1 protein; C120557:erythrocyte membrane protein band 4.1-like 1; C027908:endodeoxyribonuclease DdeI; D015252:Deoxyribonucleases, Type II Site-Specific