Title | AluY insertion (IVS4-52ins316alu) in the glycerol kinase gene from an individual with benign glycerol kinase deficiency. |
Publication Type | Journal Article |
Year of Publication | 2000 |
Authors | Zhang, Y, Dipple, KM, Vilain, E, Huang, BL, Finlayson, G, Therrell, BL, Worley, KC, Deininger, P, McCabe, ER |
Journal | Hum Mutat |
Volume | 15 |
Issue | 4 |
Pagination | 316-23 |
Date Published | 2000 |
ISSN | 1059-7794 |
Keywords | Adult, Alu Elements, Base Sequence, Black People, Consensus Sequence, Exons, Gene Amplification, Glycerol Kinase, Humans, Introns, Male, Molecular Sequence Data |
Abstract | Glycerol kinase deficiency has three distinct forms: an isolated form which may be benign or symptomatic, and a complex form which is symptomatic and part of an Xp21 contiguous gene syndrome. Here we report the case of a male with benign isolated glycerol kinase deficiency who was incidentally identified after observation of pseudohypertriglyceridemia. DNA sequencing of this subject's glycerol kinase gene showed the insertion of an AluY sequence in intron 4 of the glycerol kinase gene. Although Alu insertions have been implicated in other diseases, and a closely related AluY element is found as an insert in the C1 inhibitor gene in patients with hereditary angioedema, this is the first case of glycerol kinase deficiency caused by an Alu insertion. |
DOI | 10.1002/(SICI)1098-1004(200004)15:4<316::AID-HUMU3>3.0.CO;2-9 |
Alternate Journal | Hum Mutat |
PubMed ID | 10737976 |
Grant List | P30 HD34610 / HD / NICHD NIH HHS / United States R01 HD22563 / HD / NICHD NIH HHS / United States |
AluY insertion (IVS4-52ins316alu) in the glycerol kinase gene from an individual with benign glycerol kinase deficiency.
Similar Publications
Deep sequencing of candidate genes identified 14 variants associated with smoking abstinence in an ethnically diverse sample. Sci Rep. 2024;14(1):6385. | .
FAIR Header Reference genome: a TRUSTworthy standard. Brief Bioinform. 2024;25(3). | .
Gut Microbiota and Blood Metabolites Related to Fiber Intake and Type 2 Diabetes. Circ Res. 2024;134(7):842-854. | .