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Genetic basis of the polymorphisms of the αI domain of spectrin
Author(s) -
Gallagher Patrick G.,
Romana Marc,
Wong Clara,
Forget Bernard G.
Publication year - 1997
Publication title -
american journal of hematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.456
H-Index - 105
eISSN - 1096-8652
pISSN - 0361-8609
DOI - 10.1002/(sici)1096-8652(199710)56:2<107::aid-ajh6>3.0.co;2-2
Subject(s) - spectrin , genetics , basis (linear algebra) , domain (mathematical analysis) , biology , computational biology , medicine , mathematics , cytoskeleton , cell , mathematical analysis , geometry
Defects of α spectrin have been identified in many cases of hereditary elliptocytosis (HE) and hereditary pyropoikilocytosis (HPP). To aid in the genetic analysis of families with these disorders, the locations of three α‐spectrin gene polymorphisms were mapped, the genetic basis of these polymorphisms identified, and PCR‐based assays designed for their identification. The frequencies of these polymorphisms were determined in two populations and in patients with αI/50a HE and HPP. These studies identified two distinct haplotypes and provided evidence that two HE/HPP mutations associated with the αI/50a protein phenotype, L207P and L260P, arose on separate chromosomal backgrounds. Am. J. Hematol. 56:107–111, 1997. © 1997 Wiley‐Liss, Inc.