α地中海贫血的基因诊断及产前诊断研究

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Hb^CS、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

Study on genetic diagnosis and prenatal diagnosis of α-thalassemia

OBJECTIVE: To develop a single-tube multiplex polymerase chain reaction (mPCR) technique to detect three common deletional alpha-thalassemias (alpha-Thal) in Chinese, and to perform genetic diagnosis and prenatal diagnosis for an alpha-Thal family from Hebei province, China. METHODS: Fourty-two blood samples including samples from one alpha-Thal family from Hebei province were assayed. The mPCR containing 7 primers, gel electrophoresis and DNA sequencing were used for the genetic diagnosis and prenatal diagnosis. RESULTS: The gene types of the fourty-two DNA samples analyzed by the mPCR-gel electrophoresis technique were in accordance with the results by Southern blot and three separate PCR techniques. A HbH child and a fetus of the alpha-Thal family were diagnosed as--(SEA)/alpha(cs)alpha and alphaalpha/alphaalpha respectively by using the mPCR and DNA sequencing. The result of postnatal analysis of the cord blood was consistent with the prenatal result (alphaalpha/alphaalpha). CONCLUSION: The developed mPCR technique can be used for genetic diagnosis and prenatal diagnosis of the 3 deletional alpha-Thal in Chinese.