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Point mutation in the band 4.2 gene associated with autosomal recessively inherited erythrocyte band 4.2 deficiency.

Abstract：

:A patient who represented acute hemolytic crisis was studied. Analysis of the erythrocyte membrane proteins by SDS-PAGE revealed a deficiency of band 4.2. In the family, the sister of the patient who had been clinically normal was also shown to be deficient in band 4.2. Binding studies showed that the propositus' membranes were able to bind normal band 4.2 protein as much as control. It was suggested that the binding sites for the protein were prepared on the membrane. We analyzed the band 4.2 cDNA of the propositus and detected a mutation that changes a codon for alanine to one for threonine at residue 142. Band 4.2 exon III of genomic DNA which included the mutation site was amplified and sequenced directly in the family members, and it was revealed that only the homozygotes of the mutation allele manifested band 4.2 deficiency and the parents, who were heterozygotes, showed normal amounts of band 4.2. Recently, the same mutation was reported as Protein 4.2NIPPON in another 4 cases (Bouhassira et al. Blood 1992: 79: 1846-1854). This study supports the hypothesis that this mutation is the pathogenetic cause of band 4.2 deficiency and not a polymorphism.

journal_name

Eur J Haematol

journal_title

European journal of haematology

authors

Iwamoto S,Kajii E,Omi T,Kamesaki T,Akifuji Y,Ikemoto S

doi

10.1111/j.1600-0609.1993.tb00164.x

subject

Has Abstract

pub_date

1993-05-01 00:00:00

pages

286-91

issue

5

eissn

0902-4441

issn

1600-0609

journal_volume

50

pub_type

杂志文章

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