Abstract |
Screening a DNA bank from 50 patients with enzymatic confirmation of their diagnosis of nonketotic hyperglycinemia gave allele frequencies of 5% for R515S of P-protein (glycine decarboxylase) and 7% for R320H of T- protein ( aminomethyltransferase). In a previous report we found that 3% of the same patient alleles were positive for T- protein IVS7-1G>A. In total, testing for these three mutations identified 15% of alleles and positive results (one or two mutations) were found in 11 of the 50 patients. In addition, a novel point mutation in T- protein, N145I, was found in a single case and a PCR/restriction enzyme assay was developed for its detection.
|
Authors | J R Toone, D A Applegarth, M B Coulter-Mackie, E R James |
Journal | Molecular genetics and metabolism
(Mol Genet Metab)
Vol. 72
Issue 4
Pg. 322-5
(Apr 2001)
ISSN: 1096-7192 [Print] United States |
PMID | 11286506
(Publication Type: Journal Article, Research Support, Non-U.S. Gov't)
|
Copyright | Copyright 2001 Academic Press. |
Chemical References |
- DNA Primers
- Imines
- phenyldiazene
- Amino Acid Oxidoreductases
- Glycine Dehydrogenase (Decarboxylating)
- Hydroxymethyl and Formyl Transferases
- Aminomethyltransferase
- Glycine
|
Topics |
- Amino Acid Oxidoreductases
(genetics)
- Aminomethyltransferase
- DNA Primers
(chemistry)
- Exons
- Gene Frequency
- Glycine
(blood, metabolism)
- Glycine Dehydrogenase (Decarboxylating)
- Heterozygote
- Humans
- Hydroxymethyl and Formyl Transferases
(deficiency, genetics)
- Hyperglycinemia, Nonketotic
(enzymology, genetics)
- Imines
- Infant, Newborn
- Ketosis
- Liver
(enzymology)
- Mutation
- Polymerase Chain Reaction
- Prenatal Diagnosis
|