Genetic basis of the polymorphisms of the αI domain of spectrin

✍ Scribed by Gallagher, Patrick G.; Romana, Marc; Wong, Clara; Forget, Bernard G.

• Publisher: John Wiley and Sons
• Year: 1997
• Tongue: English
• Weight: 166 KB
• Volume: 56
• Category: Article
• ISSN: 0361-8609
• DOI: 10.1002/(sici)1096-8652(199710)56:2<107::aid-ajh6>3.0.co;2-2

✦ Synopsis

Defects of ␣ 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 ␣-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 ␣I/50a HE and HPP. These studies identified two distinct haplotypes and provided evidence that two HE/HPP mutations associated with the ␣I/50a protein phenotype, L207P and L260P, arose on separate chromosomal backgrounds. Am.