新加坡华裔β地中海贫血的分子特征：在产前诊断中的应用

Molecular characterization of beta-thalassaemia in Singaporean Chinese: application to prenatal diagnosis.

作者信息

Tan J A, Tay J S, Kham S, Chin T M, Wong H B, Lai P S

机构信息

Department of Paediatrics, National University of Singapore.

出版信息

J Paediatr Child Health. 1993 Dec;29(6):461-3. doi: 10.1111/j.1440-1754.1993.tb03021.x.

DOI:10.1111/j.1440-1754.1993.tb03021.x

PMID:8286165

Abstract

Sixty-five beta-thalassaemia genes from 14 unrelated Chinese beta-thalassaemia major patients and 37 Chinese beta-carriers were analysed by allele-specific oligonucleotide (ASO) hybridization after DNA amplification by the polymerase chain reaction (PCR). Six mutations were studied and are represented by 49.2% of codon 41-42, 30.8% of IVSII #654, 6.2% of 17 beta, 3.1% of IVSI #5 (G-->C) and 1.5% of -28 TATA box. The complete mutations responsible for beta-thalassaemia major in 13 of our 14 affected families were identified. For these families prenatal diagnosis at 10 weeks gestation using DNA amplification and ASO hybridization will replace the globin chain biosynthesis technique at 19 weeks gestation. Using ASO analysis, our results indicate that 5 oligo-probes (41-42, II-#654, 17 beta, IVSI-#5 and -28) allow determination of beta-thalassaemia mutations in 59/65 (90.8%) of the Singaporean Chinese studied.

摘要

对14名无亲缘关系的中国重型β地中海贫血患者和37名中国β地中海贫血携带者的65个β地中海贫血基因，在通过聚合酶链反应（PCR）进行DNA扩增后，采用等位基因特异性寡核苷酸（ASO）杂交进行分析。研究了6种突变，它们分别占密码子41-42的49.2%、IVSII #654的30.8%、17β的6.2%、IVSI #5（G→C）的3.1%以及-28 TATA框的1.5%。在我们研究的14个受影响家庭中的13个家庭里，确定了导致重型β地中海贫血的完整突变。对于这些家庭，在妊娠10周时使用DNA扩增和ASO杂交进行产前诊断将取代在妊娠19周时使用的珠蛋白链生物合成技术。通过ASO分析，我们的结果表明，5种寡核苷酸探针（41-42、II-#654、17β、IVSI-#5和-28）能够在59/65（90.8%）的新加坡华裔研究对象中确定β地中海贫血突变。