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目的 开发基于断裂点序列信息的 -α4.2 缺失检测技术。方法 对中国人 -α4.2 基因断裂点区域及其正常同源片断的进行测序获得可用于基因诊断的信息 ,设计PCR/DHPLC方法快速检测 -α4.2 基因。结果 序列同源性分析表明 :1个包含 4个单核苷酸位点的单体型存在于所有的 1 0个中国人 -α4.2 基因中 ,采用盲法检测了 4 0个样本的基因型以验证DHPLC方法的可靠性 ,检测结果和Gap -PCR的完全一致。结论 DHPLC是一种快速、敏感和可靠的 -α4.2 基因检测技术
Objective To develop an -α4.2 deletion detection technique based on the sequence information of breakpoints. Methods The gene fragment of Chinese human α4.2 gene and its normal homologous fragments were sequenced to obtain the information for gene diagnosis. The rapid detection of α4.2 gene by PCR / DHPLC was designed. Results Sequence homology analysis showed that a single haplotype containing 4 SNPs existed in all 10 Chinese-α4.2 genes, and 40 genes were detected by blinded method To verify the DHPLC method reliability, the test results and Gap-PCR exactly the same. Conclusion DHPLC is a fast, sensitive and reliable method for the detection of α4.2 gene