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Characterization of genomic PIG-A gene: a gene for
glycosylphosphatidylinositol-anchor biosynthesis and paroxysmal nocturnal
hemoglobinuria
Y Iida, J Takeda, T Miyata, N Inoue, J Nishimura, T Kitani, K Maeda and T Kinoshita
Department of Internal Medicine, Branch Hospital, Nagoya University School
of Medicine, Japan.
Paroxysmal nocturnal hemoglobinuria (PNH) is an acquired hemolytic anemia
characterized by the presence of abnormal subpopulations of blood cells
that are deficient in surface expression of glycosylphosphatidylinositol
(GPI)-anchored proteins. Recent studies showed that the gene termed PIG-A,
which participates in the first step of GPI-anchor biosynthesis, is mutated
in the abnormal blood cells from patients with PNH. In this study the
genomic PIG-A gene was cloned and characterized to obtain nucleotide
sequence information for analyzing somatic mutations of PIG-A in patients
with PNH. The PIG-A gene is at least 17 kb long and has six exons. The
exon-intron boundaries and 583 bp of the 5' flanking region were sequenced.
The 5' flanking region has no TATA-like sequence, but includes four CAAT
boxes, two AP-2 sequences, and a CRE sequence, some of which are present in
regions necessary for the promoter activity. We report pairs of
oligonucleotide primers for polymerase chain reaction that should be useful
to amplify and analyze various regions of the PIG-A gene in patients with
PNH.
Volume 83,
Issue 11,
pp. 3126-3131,
06/01/1994
Copyright © 1994 by The American Society of Hematology
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