Adenosine deaminase deficiency due to heterozygous abnormality consisting of a deletion of exon 7 and the absence of enzyme mRNA

Saburo Kashii, Kazuhiko Ito, Sumie Monden, Yoshiki Sasai, Kunihiro Tsuchida, Masahiro Fujita, Hiroshi Kawamoto, Mihoko Norioka, Minoru Okuma

Research output: Contribution to journalArticle

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Abstract

An adenosine deaminase (ADA;EC 3.5.4.4)‐deficient B lymphoblastoid cell line BADO5 derived from a Japanese patient with severe combined immunodeficiency disease and two B lymphoblastoid cell lines, BAMO5 from his mother and BAFO5 from his father, were characterized. To identify mutations affecting ADA activity, we prepared cDNAs to ADA mRNAs of the BADO5 cell line for nucleotide sequencing. Sequence analysis of one of the BADO5 ADA cDNA clones revealed deletion of exon 7, and one point mutation of base 629 from G to A that did not affect the amino acid sequence. All clones of the BADO5 cell line so far examined showed the absence of exon 7 by Southern blotting analysis. Ribonuclease protection assay with an RNA probe spanning from exon 5 to exon 11 showed that the BADO5 ADA mRNA had a deletion of exon 7, the BAMO5 mRNA had normal length, and the BAFO5 mRNA had two species with a deletion of exon 7 and with normal length. Consequently, the patient's ADA genes resulted from one allele of the BAMO5 ADA gene that did not produce a detectable mRNA, and the other allele of the BAFO5 ADA gene producing an aberrant mRNA without exon 7.

Original languageEnglish
Pages (from-to)49-53
Number of pages5
JournalJournal of Cellular Biochemistry
Volume47
Issue number1
DOIs
Publication statusPublished - 01-01-1991

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Adenosine Deaminase
Exons
Messenger RNA
Enzymes
Cells
Cell Line
Genes
Complementary DNA
Clone Cells
Alleles
RNA Probes
Severe Combined Immunodeficiency
Ribonucleases
Southern Blotting
Severe combined immunodeficiency due to adenosine deaminase deficiency
Point Mutation
Fathers
Sequence Analysis
Amino Acid Sequence
Assays

All Science Journal Classification (ASJC) codes

  • Biochemistry
  • Molecular Biology
  • Cell Biology

Cite this

Kashii, Saburo ; Ito, Kazuhiko ; Monden, Sumie ; Sasai, Yoshiki ; Tsuchida, Kunihiro ; Fujita, Masahiro ; Kawamoto, Hiroshi ; Norioka, Mihoko ; Okuma, Minoru. / Adenosine deaminase deficiency due to heterozygous abnormality consisting of a deletion of exon 7 and the absence of enzyme mRNA. In: Journal of Cellular Biochemistry. 1991 ; Vol. 47, No. 1. pp. 49-53.
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abstract = "An adenosine deaminase (ADA;EC 3.5.4.4)‐deficient B lymphoblastoid cell line BADO5 derived from a Japanese patient with severe combined immunodeficiency disease and two B lymphoblastoid cell lines, BAMO5 from his mother and BAFO5 from his father, were characterized. To identify mutations affecting ADA activity, we prepared cDNAs to ADA mRNAs of the BADO5 cell line for nucleotide sequencing. Sequence analysis of one of the BADO5 ADA cDNA clones revealed deletion of exon 7, and one point mutation of base 629 from G to A that did not affect the amino acid sequence. All clones of the BADO5 cell line so far examined showed the absence of exon 7 by Southern blotting analysis. Ribonuclease protection assay with an RNA probe spanning from exon 5 to exon 11 showed that the BADO5 ADA mRNA had a deletion of exon 7, the BAMO5 mRNA had normal length, and the BAFO5 mRNA had two species with a deletion of exon 7 and with normal length. Consequently, the patient's ADA genes resulted from one allele of the BAMO5 ADA gene that did not produce a detectable mRNA, and the other allele of the BAFO5 ADA gene producing an aberrant mRNA without exon 7.",
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Adenosine deaminase deficiency due to heterozygous abnormality consisting of a deletion of exon 7 and the absence of enzyme mRNA. / Kashii, Saburo; Ito, Kazuhiko; Monden, Sumie; Sasai, Yoshiki; Tsuchida, Kunihiro; Fujita, Masahiro; Kawamoto, Hiroshi; Norioka, Mihoko; Okuma, Minoru.

In: Journal of Cellular Biochemistry, Vol. 47, No. 1, 01.01.1991, p. 49-53.

Research output: Contribution to journalArticle

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AU - Kashii, Saburo

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AU - Tsuchida, Kunihiro

AU - Fujita, Masahiro

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