【摘要】 β地中海贫血在华南地区发病率较高。产前基因诊断,对患病胎儿进行人工流产,是预防患婴出生的有效措施。我们首先对广东地区17个家庭的患儿及其父母,用6种探针进行了β基因簇内10个限制酶切位点多态性的研究,并定出β~A(正常β基因)与β~T(β地贫基因)染色体的单体型。β~A染色体共15条,分属7种单体型,其中3种为新类型。26条β~T染色体也分属7种单体型,其中3种为新类型,提示其携带的β~T基因可能为新的突变类型。根据已掌握的不完整资料,这17个家庭中,约30％可以进行产前基因诊断。文中并对所得结果作了简要讨论。更多还原

【Abstract】 The incidence of β-thalassemia is relatively high in South China. Prenatal gene diagnosis, followed by artificial abortion of affected fetuses, is an effective means of preventing birth of affected babies. Consequently, we first studied 10 restriction site polymorphisms in the β-globin gene cluster with the aid of 6 probes in 17 probands and their parents from Guangdong province and determined haplotypes associated with βA (normal β-genc) and βT (β-thalassemia gene) chromosomes. The 15βA chromosomes studied belong to 7 haplotypes, 3 of which having not been reported before. The 26 βT chromosomes studied belong to 7 haplotypes as well, 3 of which having not been reported before, indicating that the βT-genes they carry may be new mutations. According to the incomplete data available, prenatal gene diagnosis is possible in about 30% of the families studied. The results were brieflv discussed.更多还原