α和β地中海贫血的羊水产前基因诊断

目的研究单管多重PCR体系检测缺失型α-地中海贫血及反向点杂交法检测β-地中海贫血在产前诊断中的应用价值。方法应用单管多重PCR体系产前检测37例父母均为α-地中海贫血杂合子的风险胎儿的羊水地贫基因及应用反向点杂交法产前检测18例父母均为β-地中海贫血杂合子的风险胎儿的羊水地贫基因。结果37例α-地中海贫血风险胎儿中检出Hb Bart纯合子7例,左缺失型H病3例,右缺失型H病2例。18例β-地中海贫血的风险胎儿检出2例IVS-nt 654/CD41-42双重杂合子,1例IVS-nt 654纯合子。结论应用单管多重PCR体系及反向点杂交法进行α和β地中海贫血产前羊水基因检测,能快速、准确作出诊断,从而预防重症患儿的出生,达到优生目的。

Amniotic fluid gene detection in prenatal diagnosis of alpha- and beta- thalassemia

ObjectiveTo study the clinical prenatal diagnostic value of singletube multiplex-PCR assay in detection amniotic fluid for alpha-thalassemia and revert dot blot hybridization in detection amniotic fluid for beta-thalassemia.Methods A single-tube multiplex-PCR assay was used to detect the amniotic fluid thalassemia gene in 37 risk fetus whose parents both with alpha-thalassemia heterozygote.A revert dot blot hybridization was used to detect the amniotic fluid thalassemia gene in 18 risk fetus whose parents both with beta-thalassemia heterozygote.Results Detection the amniotic fluid in 37 risk fetus for alpha-thalassemia revealed 7 cases of Hb Bart's homozygote,3 cases of H disease with leftward deletion type,and 2 cases of H disease with rightward deletion type.Detection the amniotic fluid in 18 risk fetus for beta-thalassemia revealed 2 cases of IVS-nt 654/CD41-42 double heterozygote and 1 case of IVS-nt 654 homozygote. Conclusion Single-tube multiple-PCR assay and revert dot blot hybridization in detection of amniotic fluid can make a rapid and accurate prenatal diagnosis of alpha-and beta-thalassemia.It is favorable for preventing the born of child with thalassemia major by these techniques,so promote the work of improving birth outcome and child development.