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Sidan uppdaterades: 2012-09-11 15:12
| Författare |
Christina Hellerud Maciej Adamowicz Dorota Jurkiewicz Joanna Taybert Jolanta Kubalska Elzbieta Ciara Ewa Popowska James R Ellis Sven Lindstedt Ewa Pronicka |
|---|---|
| Publicerad i | Molecular genetics and metabolism |
| Volym | 79 |
| Nummer/häfte | 3 |
| Sidor | 149-59 |
| ISSN | 1096-7192 |
| Publiceringsår | 2003 |
| Publicerad vid |
Institutionen för laboratoriemedicin, Avdelningen för klinisk kemi/transfusionsmedicin |
| Sidor | 149-59 |
| Språk | en |
| Länkar |
www.ncbi.nlm.nih.gov/entrez/query.f... |
| Ämnesord | Adrenal Insufficiency, genetics, Chromosomes, Human, X, DAX-1 Orphan Nuclear Receptor, DNA Mutational Analysis, DNA Primers, chemistry, DNA-Binding Proteins, chemistry, deficiency, genetics, Gene Deletion, Glycerol, blood, urine, Glycerol Kinase, chemistry, deficiency, genetics, Humans, Infant, Newborn, Male, Molecular Sequence Data, Muscular Dystrophy, Duchenne, genetics, Mutation, Poland, Polymorphism, Single-Stranded Conformational, RNA, Messenger, genetics, metabolism, Receptors, Retinoic Acid, chemistry, deficiency, genetics, Repressor Proteins, chemistry, genetics, Reverse Transcriptase Polymerase Chain Reaction, methods |
| Ämneskategorier | Molekylärbiologi, Klinisk kemi, Medicinsk bioteknologi (med inriktning mot cellbiologi (inklusive stamcellsbiologi), molekylärbiologi, mikrobiologi, biokemi eller biofarmaci) |
Five cases of glycerol kinase deficiency are presented with clinical, biochemical, and genetic results. Two had the glycerol kinase deficiency as part of an Xp21 contiguous gene deletion syndrome-complex form-and three had an isolated form of the enzyme deficiency. In these we found two splice site mutations (IVS1+4A>G, IVS9-1G>T) and one insertion (1393_1394insG). In patients with the complex form, a deletion of the DAX1, GK genes and the distal part of the DMD gene was found. A computerized study was performed to predict the effects of the splice site mutations. It showed that the IVS9-1G>T mutation substantially altered and removed the wild-type site and enhanced a cryptic site seven nucleotides downstream, and that the IVS1+4A>G diminished the strength of the wild-type donor site from strong to leaky. To verify these predictions, we developed an RT-PCR system with gene-specific primers that exclusively amplifies the Xp21 glycerol kinase gene transcript. Identification of individuals at risk is motivated by a need to avoid delay in a correct diagnosis. For reliable identification of heterozygotes for isolated glycerol kinase deficiency, knowledge of the specific mutation in the proband is required. This is easily obtained with the RT-PCR analyses developed in this study.
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