海南地区地中海贫血产前基因诊断的临床研究

目的:研究检测α-地中海贫血及β-地中海贫血在产前基因诊断中的临床应用价值。方法:对孕妇夫妇携带地中海贫血的48例风险胎儿的羊水(或脐血)应用单管多重PCR体系和反向点杂交法,进行α-地中海贫血和β-地中海贫血基因诊断。结果:共检测出地中海贫血胎儿38例。其中α-地中海贫血14例,包括东南亚缺失型杂合子(--SEA/αα)2例,东南亚缺失型纯合子(--SEA/--SEA)8例,左缺失型杂合子(-α4.2/αα)1例,右缺失型杂合子(-α3.7/αα)2例,非缺失型点突变(ααT/αα)1例;β-地中海贫血24例,包括CD41-42杂合子16例,CD41-42纯合子2例,-28(A-G)杂合子3例,双重杂合子(IVS2nt654/CD41-42,-28(A-G)/CD71-72(+A),CD41-42/-α3.7)3例。其中10例重型地贫儿引产,1例重型地贫儿产后新生儿死亡,其余均足月分娩存活。所有病例经引产或正常分娩后留取脐带血,作地贫基因诊断,与产前诊断结果一致。结论:应用单管多重PCR体系及反向点杂交法能快速、准确进行α-和β-地中海贫血产前基因检测,这对于有效预防重型地中海贫血胎儿出生具有重大临床意义。

Clincial Study of Prenatal Gene Diagnosis of Thalassemia Using Amniotic Fluid in Hainan Province

Objective: To investigate the clinical application value of prenatal gene diagnosis for alpha-thalassemia and beta-thalassemia. Methods: A single -tube multiplex-PCR assay and a PCR combined reverse dot blot(RDB) hybirdiation were used to detect the amniotic fluid (or umbilical blood) thalassemia gene in 48 cases risk fetus whose parents are both heterozygote with alpha -thalassemia or beta-thalassemia heterozygote. Results: The amniotic fluid (or umbilical blood) in 48 risk fetus of thalassemia was detected,10 normal fetus and 38 cases of thalassemia were revealed,among which 14 cases fetus were α-thalassemia and 24 cases were β-thalassemia (including 1 accompanied with α-thalassemia). In all 14 cases of fetus for alpha -thalassemia,8 cases of --SEA/ --SEA homozygote,2 cases of --SEA/ αα,2 cases of leftward deletion type,1 cases of -α3.7/αα and 1 case of ααT/αα were included. Twenty-four cases of fetus for beta -thalassemia included 16 cases of CD41-42 heterozygote,2 cases of CD41-42 homozygote,3 cases of -28(A-G),1 case of IVS -nt 654/CD41-42 double heterozygote,1 case of -28(A-G)/CD71-72 double homozygote and 1 case of CD41-42/-α3.7 double heterozygote. Ten cases fetus with thalassemia major were induced abortion,1 cases was postnatal neonatal death. Conclusion: Single -tube multiple -PCR assay and RDB hybridization in detection of amniotic fluid (or umbilical blood) can make a rapid and accurate prenatal diagnosis of alpha -and beta-thalassemia. It is of significant clinical value for preventing the born of child with thalassemia major by these techniques.