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目的建立同时检测中国人中最常见的3种α地中海贫血(地贫)基因缺失的单管多重PCR(mPCR)技术,并运用于河北省一个α地贫家系的基因诊断与产前诊断。方法mPCR包含7条引物,运用mPCR、凝胶电泳及DNA测序技术进行α地贫的基因诊断和胎儿羊水细胞DNA的产前基因诊断。结果运用mPCR技术检测了42份α地贫患者DNA标本,证明其能准确、灵敏、快速、简便地诊断出完整的α珠蛋白基因型。查明河北省1例α地贫患儿为--SEA和HbCS双重杂合子,该家系第2胎胎儿羊水细胞DNA检查证明为完全正常胎儿,产后检测与产前诊断结果相符。结论所建立的α地贫基因诊断mPCR技术可用于3种缺失型α地贫的快速诊断和产前诊断。我国北方也有少量散在α地贫患者及家系,应引起重视,以免贻误诊断和治疗。
OBJECTIVE: To establish a single-tube multiplex PCR (mPCR) technique for the simultaneous detection of the three most common thalassemia (thalassemia) genes in Chinese and for the genetic diagnosis and prenatal diagnosis of a thalassemia family in Hebei Province. Methods mPCR consisted of seven primers and used mPCR, gel electrophoresis and DNA sequencing to diagnose α-thalassemia gene and prenatal DNA of fetal amniotic fluid cells. Results DNA samples from 42 patients with α-thalassemia were detected by mPCR, which proved that the complete α-globin genotype could be diagnosed accurately, sensitively, quickly and easily. A case of α-thalassemia in Hebei Province was identified as a double heterozygote of SEA and HbCS. The second fetus fetal amniotic fluid DNA test showed a complete normal fetus. The postpartum test was consistent with the prenatal diagnosis. Conclusion The established m-PCR technique of α-thalassemia gene can be used for the rapid diagnosis and prenatal diagnosis of 3 deletion type α thalassemia. A small amount of patients with α-thalassemia and their families scattered in the northern part of our country should be given attention so as not to delay the diagnosis and treatment.