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  • Title: A Dde I RFLP in exon 21 of human EL1 gene, encoding protein 4.1, detectable by SSCP.
    Author: Maillet P, Dalla Venezia N, Bozon M, Vallier A, Delaunay J, Baklouti F.
    Journal: Hum Mutat; 1998; 11(4):342-3. PubMed ID: 9554757.
    Abstract:
    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.
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