Haynes Christopher A, De Jesús Víctor R
Newborn Screening and Molecular Biology Branch, Centers for Disease Control and Prevention, Atlanta, GA 30341, USA.
Newborn Screening and Molecular Biology Branch, Centers for Disease Control and Prevention, Atlanta, GA 30341, USA.
Clin Biochem. 2015 Jan;48(1-2):8-10. doi: 10.1016/j.clinbiochem.2014.10.001. Epub 2014 Oct 12.
Newborn screening for X-linked adrenoleukodystrophy utilizes tandem mass spectrometry to analyze dried-blood spot specimens. Quality control materials (dried-blood spots enriched with hexacosanoyl lysophosphatidylcholine) were prepared and stored at different temperatures for up to 518days to evaluate the stability of this biomarker for X-linked adrenoleukodystrophy.
Dried-blood spot storage included desiccant (45, 171, and 518days) or omitted desiccant (53days at >90% relative humidity). Specimens were stored for 171 and 518days at -20°C, 4°C, ambient temperature, and 37°C. Each weekday for 45days, a bag of specimens stored at 4°C was warmed to ambient temperature and one specimen was removed for storage at -80°C. Specimens were analyzed by high-performance liquid-chromatography electrospray ionization tandem mass spectrometry and data was plotted as concentration (micromoles per liter) vs. time. Linear regression provided slope and y-intercept values for each storage condition.
Small slope values (0.01 or less) and y-intercept values close to the enrichment indicated less than 11% loss of hexacosanoyl lysophosphatidylcholine under all storage conditions tested.
Quality control materials for X-linked adrenoleukodystrophy are stable for at least 1year when stored with desiccant.
对X连锁肾上腺脑白质营养不良进行新生儿筛查时，利用串联质谱分析法分析干血斑标本。制备了质量控制材料（富含二十六烷酰溶血磷脂酰胆碱的干血斑），并在不同温度下储存长达518天，以评估这种用于X连锁肾上腺脑白质营养不良的生物标志物的稳定性。
干血斑储存包括使用干燥剂（45天、171天和518天）或不使用干燥剂（在相对湿度>90%的条件下储存53天）。标本在-20°C、4°C、室温及37°C下储存171天和518天。在45天的每个工作日，将一袋储存在4°C的标本升温至室温，并取出一个标本储存在-80°C。通过高效液相色谱-电喷雾电离串联质谱对标本进行分析，并将数据绘制成浓度（微摩尔/升）与时间的关系图。线性回归给出了每种储存条件下的斜率和y轴截距值。
在所有测试的储存条件下，小的斜率值（0.01或更小）和接近富集量的y轴截距值表明二十六烷酰溶血磷脂酰胆碱的损失小于11%。
用于X连锁肾上腺脑白质营养不良的质量控制材料在与干燥剂一起储存时至少1年内是稳定的。
