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A point mutation in the 5′ splice region of intron 7 causes a deletion of exon 7 in adenosine deaminase mRNA

✍ Scribed by Hiroshi Kawamoto; Kazuhiko Ito; Saburo Kashii; Sumie Monden; Masahiro Fujita; Mihoko Norioka; Yoshiki Sasai; Minoru Okuma

Publisher
John Wiley and Sons
Year
1993
Tongue
English
Weight
348 KB
Volume
51
Category
Article
ISSN
0730-2312

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✦ Synopsis

An adenosine deaminase (ADA;EC 3.5.4.4bdeficient B lymphoblastoid cell line BAD05 derived from a Japanese patient with severe combined immunodeficiency was characterized. As previously reported, one allele of BAD05 expresses undetectable ADA mRNA, and the other allele produces an aberrant mRNA without exon 7. Genomic ADA DNA of BAD05 spanning from a portion of exon 6 to a portion of exon 8 was amplified by PCR. The amplified fragments were cloned into a vector, and 8 clones were isolated and sequenced. The analytical result showed a single base change of G to A at the invariant 5' GT of intron 7 of ADA gene in one allele of BADOS, which accounts for the elimination of exon 7 during splicing.

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