학술논문
Use of minigene assays as a useful tool to confirm the pathogenic role of intronic variations of the ANK1 gene: Report of two cases of hereditary spherocytosis.
Document Type
Article
Author
Source
Subject
*GENETIC variation
*MEDICAL genetics
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Language
ISSN
0007-1048
Abstract
I ANK1 i is one of the most frequently mutated genes in hereditary spherocytosis (HS) in European countries and encodes the protein Ankyrin-1 which is a major membrane erythrocyte protein linking horizontal protein network to the vertical one. Briefly, total RNA was purified from cultured cells transfected with empty plasmid, minigene containing partial wild-type (WT) or mutated I ANK1 i intron, prior natural I n i + 1 exon and partial I n i + 1 intron. Molecular analysis revealed the presence of an I ANK1 i intronic variation at heterozygous state: NM 020476 ( I ANK1 i ): c.1405-9G>A (intron 13) in patient 1 and c.5097-33G>A (intron 38) in patient 2. [Extracted from the article]