One of the two genomic copies of the glycine decarboxylase cDNA has been deleted at a 5′ region in a patient with nonketotic hyperglycinemia

Toshihiro Sakakibara, Hirohisa Koyata, Yoshihisa Ishiguro, Shigeo Kure, Akihiro Kume, Keiya Tada, Koichi Hiraga

Research output: Contribution to journalArticlepeer-review

7 Citations (Scopus)

Abstract

One of eight patients with nonketotic hyperglycinemia resulted by the lesion in glycine decarboxylase showed the deletion of 0.6-kb SacI and 1.5-kb PstI fragments identified by the cDNA for this protein. A genomic clone, λHGDG10, encodes a 5′ region of this cDNA in an organized structure and can produce these two fragments. The other clone, λHGDG8, carries a processed gene. Southern analysis using a limited segment of this cDNA demonstrated that the 1.7-kb and 1.5-kb PstI fragments predicted from its recognition sites in both genomic clones occur actually in the human genome, indicating that at least two copies of glycine decarboxylase cDNA exist in the haploid genome, and the patient has the glycine decarboxylase gene deleted at a 5′ region.

Original languageEnglish
Pages (from-to)801-806
Number of pages6
JournalBiochemical and biophysical research communications
Volume173
Issue number3
DOIs
Publication statusPublished - 1990 Dec 31

ASJC Scopus subject areas

  • Biophysics
  • Biochemistry
  • Molecular Biology
  • Cell Biology

Fingerprint Dive into the research topics of 'One of the two genomic copies of the glycine decarboxylase cDNA has been deleted at a 5′ region in a patient with nonketotic hyperglycinemia'. Together they form a unique fingerprint.

Cite this