论文部分内容阅读
目的建立4个β-地中海贫血基因罕见突变位点反向杂交膜条的基因诊断方法,以用于临床该疾病罕见样本的检测。方法设计并合成8条探针用于检测在中国人中发现的4个β-地中海贫血基因罕见突变位点,将探针点至醋酸纤维膜上,制成反向杂交膜条;通过检测4种罕见临床样本和30份临床阴性标本,对其临床检测效果进行评价。结果共制备了含8条寡核苷酸探针的反向杂交膜条,临床验证结果表明,均能检测出这4种罕见的基因突变位点,而阴性标本未检测出。结论研制的针对4个β-地中海贫血基因罕见突变位点反向杂交膜条敏感度高,特异性好,能准确检测4个β-地中海贫血基因罕见突变的标本,可临床推广应用。
OBJECTIVE: To establish a method for genetic diagnosis of four reverse β-thalassemia gene reverse hybridization membrane strips for the clinical detection of rare samples of this disease. Methods Eight probes were designed and synthesized for the detection of four rare sites of β-thalassemia mutations found in Chinese. The probes were then hybridized to acetate membrane to make reverse hybridization membrane strips. By detecting 4 A rare clinical samples and 30 clinical negative specimens, the clinical test results were evaluated. Results A total of 8 oligonucleotide probes were prepared for reverse hybridization. The results of clinical validation showed that these four rare gene mutation sites were detected, while the negative ones were not detected. CONCLUSIONS: The reverse hybridization membrane strips developed for the rare mutation sites of 4 β-thalassemia genes are highly sensitive and specific, and can accurately detect rare mutations of 4 β-thalassemia genes and can be popularized clinically.