One of the two genomic copies of the glycine decarboxylase cDNA has been deleted at a 5' region in a patient with nonketotic hyperglycinemia.
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, lambda HGDG10, encodes a 5' region of this cDNA in an organized structure and can produce these two fragments. The other clone, lambda HGDG8, 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.
Sakakibara
T
T
Department of Biochemistry, Toyama Medical and Pharmaceutical University School of Medicine, Japan.
Koyata
H
H
Ishiguro
Y
Y
Kure
S
S
Kume
A
A
Tada
K
K
Hiraga
K
K
D000594:Amino Acid Oxidoreductases / Q000235:genetics*; D001483:Base Sequence; D015139:Blotting, Southern; D002872:Chromosome Deletion; D003001:Cloning, Molecular; D004247:DNA / Q000737:chemistry*; D015252:Deoxyribonucleases, Type II Site-Specific; D005091:Exons; D015698:Genomic Library; D050841:Glycine Dehydrogenase (Decarboxylating); D006801:Humans; D006944:Hyperglycemic Hyperosmolar Nonketotic Coma / Q000201:enzymology / Q000235:genetics*; D008969:Molecular Sequence Data; D015183:Restriction Mapping
D004247:DNA; D000594:Amino Acid Oxidoreductases; D050841:Glycine Dehydrogenase (Decarboxylating); C024388:CTGCAG-specific type II deoxyribonucleases; D015252:Deoxyribonucleases, Type II Site-Specific