A novel splice acceptor site mutation which produces multiple splicing abnormalities resulting in protein S deficiency type I

Hideki Tatewaki, Hiroko Iida, Mutsuko Nakahara, Hiroko Tsuda, Sachiko Kinoshita, Taisuke Kanaji, Nobuyuki Yoshida, Sumio Miyazaki, Naotaka Hamasaki

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14 Citations (Scopus)

Abstract

In an attempt to explore the molecular mechanisms for protein S deficiency, a patient with such a deficiency was examined at the DNA, RNA and protein levels. Nucleotide analyses revealed that the proband, the mother and the grandmother had a G → C substitution in the invariant AG dinucleotide at the splicing acceptor site of intron A/exon 2. This patient was heterozygous for this substitution and the mutant allele was inherited from the proband's mother and grandmother. Reverse transcription-polymerase chain reaction analysis demonstrated several kinds of splicing abnormalities such as exon skipping and cryptic splicing, in addition to correct splicing. Semiquantitation of mRNA for the protein S gene revealed that the amount of the proband's mRNA was reduced to 60% of normal. Thus, this mutation impaired the normal processing of mRNA for the protein S gene, resulting in the subject's severe protein S deficiency.

Original languageEnglish
Pages (from-to)65-71
Number of pages7
JournalThrombosis and Haemostasis
Volume82
Issue number1
DOIs
Publication statusPublished - 1999

All Science Journal Classification (ASJC) codes

  • Hematology

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    Tatewaki, H., Iida, H., Nakahara, M., Tsuda, H., Kinoshita, S., Kanaji, T., Yoshida, N., Miyazaki, S., & Hamasaki, N. (1999). A novel splice acceptor site mutation which produces multiple splicing abnormalities resulting in protein S deficiency type I. Thrombosis and Haemostasis, 82(1), 65-71. https://doi.org/10.1055/s-0037-1614631