One of the two genomic copies of the glycine decarboxylase cDNA has been deleted at a 5′ region in a patient with nonketotic hyperglycinemia
| Autor: | Akihiro Kume, Toshihiro Sakakibara, Koichi Hiraga, Shigeo Kure, Y Ishiguro, Keiya Tada, H Koyata |
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| Rok vydání: | 1990 |
| Předmět: |
clone (Java method)
Hyperglycinemia Molecular Sequence Data Restriction Mapping Biophysics Biology medicine.disease_cause Biochemistry Complementary DNA medicine Humans Cloning Molecular Deoxyribonucleases Type II Site-Specific Molecular Biology Gene Southern blot Genetics Genomic Library Mutation Base Sequence DNA Exons Cell Biology Glycine Dehydrogenase (Decarboxylating) medicine.disease Molecular biology Blotting Southern Glycine Hyperglycemic Hyperosmolar Nonketotic Coma Human genome Amino Acid Oxidoreductases Chromosome Deletion |
| Zdroj: | Biochemical and Biophysical Research Communications. 173:801-806 |
| ISSN: | 0006-291X |
| DOI: | 10.1016/s0006-291x(05)80858-7 |
| Popis: | Summary One of eight patients with nonketotic hyperglycinemia resulted by the lesion in glycine decarboxylase showed the deletion of 0.6-kb Sac I and 1.5-kb Pst I 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 Pst I 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. |
| Databáze: | OpenAIRE |
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