NDLI: Biochemical studies on red blood cells from a patient with the Inab phenotype (decay-accelerating factor deficiency)

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Biochemical studies on red blood cells from a patient with the Inab phenotype (decay-accelerating factor deficiency)

Content Provider	Scilit
Author	Reid, Me Mallinson, G. Sim, Rb Poole, J. Pausch, V. Merry, Ah Liew, Yw Tanner, Mj
Copyright Year	1991
Description	A 38-year-old Russian woman (KZ) has been identified as the fourth proposita with the Inab blood group phenotype. Like the first two propositi, she has a chronic intestinal disorder and, as shown for the third proposita, her Inab phenotype is demonstrably inherited. KZ's serum contained anti-IFC, which reacted with a red blood cell (RBC) membrane component with an Mr of 70,000, which is decay accelerating factor (DAF). Her RBCs lacked all Cromer-related blood group antigens and DAF. Her RBCs were no more susceptible than normal control RBCs to lysis in acid lysis or in rabbit or human antibody-initiated complement lysis tests. Northern blots of total RNA isolated from KZ's Epstein- Barr virus-transformed lymphoblasts showed a marked reduction of DAF mRNA when compared with normal. Polymerase chain reaction (PCR) amplification of cDNA confirmed this reduced level of DAF mRNA. Sequencing of the PCR product showed a 44-nucleotide deletion in the mRNA close to the short consensus repeats IIIa/IIIb intron/exon boundary. This deletion results in a change in the reading frame that places a termination codon six amino acids after the deletion. The putative translation product would lack a glycosyl phosphatidyl- inositol linkage site and, therefore, would not be membrane-bound in the RBC.
Related Links	https://ashpublications.org/blood/article-pdf/78/12/3291/223619/3291.pdf
Ending Page	3297
Page Count	7
Starting Page	3291
DOI	10.1182/blood.v78.12.3291.bloodjournal78123291
Journal	Blood
Issue Number	12
Volume Number	78
Language	English
Publisher	American Society of Hematology
Publisher Date	1991-12-15
Access Restriction	Open
Subject Keyword	Virology Antibody Virus Antigens Lysis Rbcs Deletion Decay Accelerating Factor Journal: Blood (Vol- 118, Issue- 12)
Content Type	Text
Resource Type	Article

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