DNA诊断在新生儿筛查随访中证实血红蛋白缺失。
DNA diagnosis confirms hemoglobin deletion in newborn screen follow-up.
作者信息
Bhardwaj Urvashi, Zhang Yao-Hua, Jackson Desirée S, Buchanan George R, Therrell Bradford L, McCabe Linda L, McCabe Edward R b
机构信息
Departments of Pediatrics and Human Genetics, David Geffen School of Medicine at UCLA, Mattel Children's Hospital at UCLA, and Molecular Biology Institute, UCLA, Los Angeles, California 90095-1752, USA.
出版信息
J Pediatr. 2003 Mar;142(3):346-8. doi: 10.1067/mpd.2003.117.
Molecular genetic confirmatory testing with polymerase chain reaction amplification is integral to neonatal hemoglobinopathy screening programs. In this study, we demonstrate applicability of polymerase chain reaction-based testing for the common deletions in blacks responsible for hereditary persistence of fetal hemoglobin. This approach will provide rapid diagnostic clarification in newborn screening follow-up.
采用聚合酶链反应扩增进行分子遗传学确证检测是新生儿血红蛋白病筛查项目不可或缺的一部分。在本研究中，我们证明了基于聚合酶链反应的检测方法对于黑人中导致胎儿血红蛋白遗传性持续存在的常见缺失的适用性。这种方法将在新生儿筛查随访中提供快速的诊断澄清。
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