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.