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首页> 外文期刊>Clinical Chemistry: Journal of the American Association for Clinical Chemists >Genetic screening of newborns for sickle cell disease: correlation of DNA analysis with hemoglobin electrophoresis.
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Genetic screening of newborns for sickle cell disease: correlation of DNA analysis with hemoglobin electrophoresis.

机译：新生儿镰状细胞疾病的基因筛查：DNA分析与血红蛋白电泳的相关性。

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摘要

Although DNA analysis based on the polymerase chain reaction (PCR) offers potential advantages for screening newborns for sickle cell disease, few data are available concerning the reliability of PCR-based tests for such screening. We describe a protocol for detecting the A, S, and C alleles of the beta-globin gene in dried blood from phenylketonuria screening cards. This method is based on PCR and detection with allele-specific oligonucleotide probes. Results of a blind comparison of PCR analysis of the dried blood with hemoglobin electrophoresis of whole-blood samples agreed for 80 of 81 samples. The single discrepancy is probably not attributable to a failure of the PCR method, but rather to limitations of the electrophoresis method. The PCR method should be a highly accurate means of detecting beta-globin alleles in routine genetic screening with dried blood already collected for (e.g.) phenylketonuria screening.
机译：尽管基于聚合酶链反应（PCR）的DNA分析为筛查新生儿镰状细胞疾病提供了潜在的优势，但有关基于PCR的筛查测试可靠性的数据很少。我们描述了一种从苯丙酮尿症筛查卡中检测干血中β-珠蛋白基因的A，S和C等位基因的协议。该方法基于PCR和使用等位基因特异性寡核苷酸探针的检测。全血样品的血红蛋白电泳与干血PCR分析的盲目比较结果符合81个样品中的80个。单一差异可能不归因于PCR方法的失败，而是归因于电泳方法的局限性。 PCR方法应该是在常规基因筛查中检测β-珠蛋白等位基因的高精度方法，该常规基因筛查已经收集了用于（例如）苯丙酮尿症筛查的干血。

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