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首页> 外文期刊>The journals of gerontology.Series A. Biological sciences and medical sciences >Glucose-6-phosphate dehydrogenase deficiency in female octogenarians, nanogenarians, and centenarians.
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Glucose-6-phosphate dehydrogenase deficiency in female octogenarians, nanogenarians, and centenarians.

机译：女性八十岁老人，纳米老人和百岁老人中的6-磷酸葡萄糖脱氢酶缺乏症。

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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 gene 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 HpaII 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.
机译：背景：研究了年龄相关的X染色体失活导致老年人G6PD基因突变的人群中葡萄糖6磷酸脱氢酶（G6PD）缺乏的歪斜。方法：采用生物化学方法检测G6PD活性。通过聚合酶链反应（PCR）和等位基因特异性延伸检测G6PD突变，并通过基质辅助激光解吸电离飞行时间（MALDI-TOF）质谱和Sequenom MassARRAY分析。在HpaII消化之前和之后，通过半定量PCR对HUMARA基因定量X染色体失活。结果：在173名妇女（中位年龄为90岁;范围为80-107岁）中，鉴定出18个G6PD突变的杂合子。由于杂种X染色体失活影响了野生型等位基因，三个杂合子缺乏G6PD。十五个杂合子具有明显影响突变等位基因的偏斜，具有正常但显着较低的G6PD水平。 G6PD缺乏症的发生率为1.73％，比出生时进行人口筛查的预期发生的频率明显更高。结论：由于偏斜的X染色体失活，具有普遍G6PD突变的人群中的老年妇女有G6PD缺乏的风险。

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