title: [Research on genetic abnormality in the hemolytic form of hereditary elliptocytosis with homozygosity for the spectrin alpha I/74 variant].
abstract: We have undertaken to identify the spectrin gene mutation in a patient with a severe hemolytic form of Hereditary Elliptocytosis with homozygosity for the spectrin alpha I/74 variant. This variant corresponds to the presence of a 74,000 peptide which is produced during mild tryptic digestion of spectrin by cleavage at the Arginine-39 of the alpha I/80,000 domain of the spectrin alpha chain (595 amino acids). We hypothesized that the alpha I/74 mutation would be closed to the cleavage site Arg-39. A genomic library built with the patient's DNA was screened with a probe corresponding to a fragment of the alpha spectrin gene. Two clones were isolated, one being of paternal, the other of maternal origin. The subclones obtained contained the alpha spectrin gene exons 2 and 3 which encode for the first 88 amino-acids of the spectrin alpha I domain. The sequences obtained did not show any abnormality. The implications of these results are discussed.
authors.affiliation: I.N.S.E.R.M., Unité n. 160, Hôpital Beaujon, Clichy.
authors.forename: M
authors.initials: M
authors.lastname: Garbarz
authors.forename: I
authors.initials: I
authors.lastname: Devaux
authors.forename: B
authors.initials: B
authors.lastname: Grandchamp
authors.forename: C
authors.initials: C
authors.lastname: Picat
authors.forename: D
authors.initials: D
authors.lastname: Dhermy
authors.forename: M C
authors.initials: MC
authors.lastname: Lecomte
authors.forename: P
authors.initials: P
authors.lastname: Boivin
authors.forename: K E
authors.initials: KE
authors.lastname: Sahr
authors.forename: B
authors.initials: B
authors.lastname: Forget
mesh_terms: D000745:Anemia, Hemolytic, Congenital / Q000150:complications; D015342:DNA Probes; D004612:Elliptocytosis, Hereditary / Q000235:genetics*; D005091:Exons; D006720:Homozygote; D006801:Humans; D007231:Infant, Newborn; D015183:Restriction Mapping; D013049:Spectrin / Q000235:genetics*
chemical_list: D015342:DNA Probes; D013049:Spectrin
vernacular_title: Recherche de l'anomalie génétique dans une forme hémolytique d'elliptocytose héréditaire avec homozygotie pour le variant spectrine alpha I/74.