The spectrum of PIG-A gene mutations in aplastic anemia/paroxysmal nocturnal hemoglobinuria (AA/PNH): a high incidence of multiple mutations and evidence.

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The spectrum of PIG-A gene mutations in aplastic anemia/paroxysmal nocturnal hemoglobinuria (AA/PNH): a high incidence of multiple mutations and evidence of a mutational hot spot by Yousef Mortazavi, Bruno Merk, Jenny McIntosh, Judith C. W. Marsh, Hubert Schrezenmeier, and Tim R. Rutherford Blood Volume 101(7):2833-2841 April 1, 2003 ©2003 by American Society of Hematology

PCR strategy for SSCP analysis of PIG-Acoding sequences. Yousef Mortazavi et al. Blood 2003;101:2833-2841 ©2003 by American Society of Hematology

Enrichment of CD59− granulocytes with immunomagnetic beads Enrichment of CD59− granulocytes with immunomagnetic beads.(A) Fluorescence histogram of CD59 staining of granulocytes before separation, showing a minor negative population. Enrichment of CD59− granulocytes with immunomagnetic beads.(A) Fluorescence histogram of CD59 staining of granulocytes before separation, showing a minor negative population. (B) Fluorescence histogram after depletion of CD59+ cells. Yousef Mortazavi et al. Blood 2003;101:2833-2841 ©2003 by American Society of Hematology

DNA sequence derived from a heteroduplex fragment DNA sequence derived from a heteroduplex fragment.A heteroduplex band from patient no. 34 was isolated, reamplified, and sequenced. DNA sequence derived from a heteroduplex fragment.A heteroduplex band from patient no. 34 was isolated, reamplified, and sequenced. Note unambiguous sequence up to the arrowed nucleotide (T at nt 775 on the PIG-A cDNA sequence), then ambiguous sequence. By subtracting the normal sequence 775-GTCAGCAGACTTGTT from the observed sequence the alternative peaks can be clearly read as 778-AGCAGACTTGTTAC showing deletion of 3 nucleotides. Yousef Mortazavi et al. Blood 2003;101:2833-2841 ©2003 by American Society of Hematology

DNA sequence showing a 31-nt duplication DNA sequence showing a 31-nt duplication.An abnormal band from patient no. 24 was isolated, reamplified, and sequenced. DNA sequence showing a 31-nt duplication.An abnormal band from patient no. 24 was isolated, reamplified, and sequenced. The duplicated sequence is shown overlined. Yousef Mortazavi et al. Blood 2003;101:2833-2841 ©2003 by American Society of Hematology

Mutation-specific PCR products Mutation-specific PCR products.Patient DNA was amplified with primers specific for the 5-bp deletion at nt 662 to 666. Mutation-specific PCR products.Patient DNA was amplified with primers specific for the 5-bp deletion at nt 662 to 666. The identity of the bands at 163 bp was confirmed by DNA sequencing. M indicates size marker. Yousef Mortazavi et al. Blood 2003;101:2833-2841 ©2003 by American Society of Hematology

PNH Type I, II, and III populations in granulocytes PNH Type I, II, and III populations in granulocytes.Fluorescence histograms of CD59-stained granulocytes from patients (A) no. 22, (B) and (C) no. 23, (D) no. 25, (E) and (F) no. 28, (G) and (H) no. 29, before (A-B,D-E,G) and after (C,F,H) immunomagnetic de... PNH Type I, II, and III populations in granulocytes.Fluorescence histograms of CD59-stained granulocytes from patients (A) no. 22, (B) and (C) no. 23, (D) no. 25, (E) and (F) no. 28, (G) and (H) no. 29, before (A-B,D-E,G) and after (C,F,H) immunomagnetic depletion of CD59+ cells. Unfilled histogram indicates healthy control; filled histogram, patient. Yousef Mortazavi et al. Blood 2003;101:2833-2841 ©2003 by American Society of Hematology