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- Title
Glucose-6-Phosphate Dehydrogenase Deficiency in Female Octogenarians, Nanogenarians, and Centenarians.
- Authors
Wing-Yan Au; Lam, Veronica; Pang, Annie; Wing-Man Lee; Chan, Jess L. C.; You-Qiang Song; Ma, Edmond S.; York-Lam Kwong
- Abstract
Background. Age-related skewing of X-chromosome inactivation leading to glucose-6-phosphate dehydrogenase (G6PD) deficiency in elderly women in a population with prevalent G6PD gone mutations was investigated. Methods. G6PD activity was measured biochemically, G6PD mutations were detected by polymerase chain reaction (PCR) and allele-specific extension, and analyzed by matrix-assisted laser desorption ionization-time of flight (MALDI-TOF) mass spectrometry and Sequenom MassARRAY. X-chromosome inactivation was quantified by semiquantitative PCR for the HUMARA gene, before and after Hpall digestion. Results. In 173 women (median age: 90 years; range, 80-107 years). 18 heterozygotes for G6PD mutations were identified. Three heterozygotes were G6PD deficient, owing to skewed X chromosome inactivation affecting the wild-type allele. Fifteen heterozygotes, with skewing apparently affecting the mutant alleles, had normal but significantly lower G6PD levels. At 1.73%, G6PD deficiency was significantly more frequent than expected from population screening at birth. Conclusion. Due to skewed X-chromosome inactivation, elderly women in populations with prevalent G6PD mutations are at risk of G6PD deficiency.
- Subjects
GLUCOSE-6-phosphate dehydrogenase deficiency; DISEASES in older women; CENTENARIANS; AGE factors in disease; AGING
- Publication
Journals of Gerontology Series A: Biological Sciences & Medical Sciences, 2006, Vol 61, Issue 10, p1086
- ISSN
1079-5006
- Publication type
Article