摘要
目的 采用单管多重PCR体系快速检测三种最常见缺失型α地中海贫血 ,并探讨该体系应用于临床基因诊断、产前诊断的可行性。方法 采用单管多重PCR体系对 2 1例血红蛋白H病和 4 4 2例临床送检病例血样本进行α地中海贫血基因诊断 ,另 2例取羊水进行产前诊断。结果 2 1例H病中 11例为右缺失型H病 ( -α3 .7/ - - ) ,占 5 2 .4 % ;10例为左缺失型H病 ( -α4.2 / - - ) ,占 4 7.6 %。 4 4 2例送检病例中正常 (αα/αα) 30 2例 ;14 0例为缺失型α地贫 ,其中东南亚缺失 ( - - SEA/αα) 12 3例 ,占 87.9% ( 12 3/ 14 0 ) ,右失型 ( -α3 .7/αα) 10例 ,占 7.1% ( 10 / 14 0 ) ,左缺失 ( -α4.2 /αα) 7例 ,占 5 .0 % ( 7/ 14 0 )。 2例羊水中一例为HbBart’s胎儿水肿胎 ( - - / - - ) ,另一例为东南亚缺失 ( - - SEA/αα)。结论 该体系能快速检测三种最常见缺失型α地中海贫血 ,方法准确、简便、可靠、重复性好 ,可望广泛用于临床疑诊病例的基因诊断和产前诊断。
Objective: Using single-tube multiplex-PCR assay to detect the three commonest deletional α-thalassemia, and discuss the feasibility of using the techniques to gene diagnosis and prenatal diagnosis. Methods: 21 cases of HbH disease and 442 clinical uncertain cases were detected by the single-tube multiplex-PCR assay, and 2 cases were detected with amniotic fluid. Result in 21 cases, 11 were detected to be the rightward deletional type (--α 3.7 /--), accounting for 52.4%, 10 were detected to be the leftward deletional type (-α 4.2 /--), accounting for 47.6 %; In 442 clinical uncertain cases, 302 cases belonged to the normal type (αα/αα), 140 cases were the deletional α-thalassemia, of which 123 cases were southease Asia deletional type (-- SEA /αα), accounting for 87.9%(123/140), 10 cases were rightward deletional type (-α 3.7 /αα), accounting for 7.1.%(10/140), and 7 cases were leftward deletional type (-α 4.2 /αα), accounting for 5.0%(7/140). In the 2 cases with amniotic fluid, one was Hb Bart's hydrops fetalis syndrome, and the other was southease Asia deletional type (-- SEA /αα). Conclusion: The single-tube multiplex-PCR assay could be rapid detection of the deletional α-thalassemia, the method were accurate, simple, credibility and well reproducible, it may be very suitable for gene diagnosis and prenatal diagnosis in clinical uncertain cases.
出处
《中国优生与遗传杂志》
2004年第5期34-35,共2页
Chinese Journal of Birth Health & Heredity
