Silent Polymorphisms within the Coding Region of Human Sodium/Hydrogen Exchanger Isoform-1 cDNA in Peripheral Blood Mononuclear Cells of Leukemia Patients: A Comparison with Healthy Controls

We have examined the sequence of the cDNA encoding the sodium/hydrogen exchanger isoform 1 (NHE1), from 23 bases upstream of the start codon to 28 bases downstream of the stop codon. Template was prepared from (1) peripheral blood mononuclear cells (PBMC) isolated from 10 healthy unrelated Caucasian...

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Bibliographic Details
Published in:Cancer genetics and cytogenetics 2000-07, Vol.120 (1), p.37-43
Main Authors: Garden, Oliver A, Musk, Philip, Worthington-White, Diana A, Dewey, Michael J, Rich, Ivan N
Format: Article
Language:English
Subjects:
Adult
Base Sequence
Biological and medical sciences
DNA, Complementary
Female
Hematologic and hematopoietic diseases
Humans
Leukemia - blood
Leukemia - genetics
Leukemia - metabolism
Leukemias. Malignant lymphomas. Malignant reticulosis. Myelofibrosis
Leukocytes, Mononuclear - metabolism
Male
Medical sciences
Middle Aged
Molecular Sequence Data
Polymerase Chain Reaction - methods
Polymorphism, Genetic
Protein Isoforms
Sodium-Hydrogen Exchangers - genetics
Tumor Cells, Cultured
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Summary:We have examined the sequence of the cDNA encoding the sodium/hydrogen exchanger isoform 1 (NHE1), from 23 bases upstream of the start codon to 28 bases downstream of the stop codon. Template was prepared from (1) peripheral blood mononuclear cells (PBMC) isolated from 10 healthy unrelated Caucasian volunteers; (2) PBMCs isolated from 6 leukemic patients (acute lymphoblastic leukemia [ALL], n = 3; chronic lymphocytic leukemia [CLL], n = 1; chronic myelogenous leukemia [CML], n = 2); and (3) samples of 4 leukemic cell lines (ALL: CEM, MOLT4; AML: KG1a; CML: K562). NHE1 cDNA in normal PBMCs showed silent polymorphism of nucleotides 112 (N1: T, frequency 0.70; C, frequency 0.30; prevalence of heterozygosity 0.42); 2248 (N2: G, frequency 0.90; A, frequency 0.10; heterozygosity 0.18); and 2493 (N3: G, frequency 0.90; A, frequency 0.10; heterozygosity 0.18). Deduced primary structure of NHE1 protein in all normal volunteers was identical to that previously published for NHE1 from renal and cardiac tissue. Similar to normal PBMCs, NHE1 cDNA from leukemic cells showed polymorphism of nucleotides N1, N2, and N3, but failed to demonstrate leukemia-specific sequence differences. We conclude that the coding region of NHE1 cDNA shows a greater level of polymorphism than is currently recognized, but that sequence mutation of NHE1 is not a key event in the pathogenesis of leukemia.
ISSN:0165-4608
1873-4456
DOI:10.1016/S0165-4608(99)00246-0