Only the very N-terminal 22 residues and the C-terminal 150 residues appear to be unrelated to the conserved repeat units. (1991) noted that the SPTA gene spans 80 kb and includes 52 exons ranging in size from 18 to 684 bp.They mapped the exons and the intron-exon junctions.(1985) assigned the alpha-spectrin gene to chromosome 1 in both mouse and man.By in situ hybridization, the human gene was localized to 1q22-q25.Another cell line showed 2 alpha-spectrin alleles, consistent with the location of alpha-spectrin in the distal part of 1q21. (1989) presented linkage data and analyzed the relationship between the SPTA1 locus and the anonymous DNA fragment D1S75.Pairwise analyses estimated the maximum likelihood of 12.8% recombination for the SPTA1/D1S75 interval with a peak lod score of 5.04.
By somatic cell hybrid studies, 2987946] [Full Text]" pmid="2987946"Huebner et al.Spectrin Culoz (182860.0006) and spectrin Lyon (182860.0007) are examples of alpha I/74 mutations of the alpha-spectrin chain.2794061] [Full Text]" pmid="2794061"Sahr et al.(1989) used PCR to amplify the appropriate exons in DNA from individuals with 3 variants of hereditary elliptocytosis.9887280] [Full Text]" pmid="9887280"Gallagher and Forget (1998) tabulated 2 SPTA1 mutations that cause hereditary spherocytosis as contrasted with 19 mutations of the beta-spectrin gene (SPTB; 182870) that are known to cause hereditary spherocytosis.9887280] [Full Text]" pmid="9887280" It has repeatedly been observed that the amount of mutant alpha chain is variable in different individuals with hereditary elliptocytosis, resulting in clinical pictures of variable severity.