Németi M, Bolodár A, Török O, Papp Z
Debreceni Orvostudományi Egyetem, Szülészeti és Nögyógyászati Klinika.
Orv Hetil. 1990 Jul 29;131(30):1635-8.
Haemophilia-A is the most common bleeding disorder in man, resulting from a deficiency of the coagulant protein, factor VIII. The factor VIII gene is located at Xq28 and the disease is inherited as an X-linked recessive disorder. There is a possibility using DNA probes closely linked to the gene factor VIII to determine the genotype. The availability of factor VIII DNA probes has led to the detection of carrier females and first trimester prenatal diagnosis of haemophilia-A. The authors give a short account on their experiences with four DNA probes. Their studies were carried out in nine families who have affected individuals and plan another pregnancies in the near future. DNA analysis can allow first trimester prenatal diagnosis from chorionic villi taken at 8-10th weeks of gestation. In the case of a male fetus it is possible to determine whether the mutant gene is inherited or not. Till now seven prenatal diagnoses have been performed based on the chorionic DNA.
甲型血友病是人类最常见的出血性疾病,由凝血蛋白因子 VIII 缺乏所致。因子 VIII 基因位于 Xq28,该疾病以 X 连锁隐性方式遗传。有可能使用与因子 VIII 基因紧密连锁的 DNA 探针来确定基因型。因子 VIII DNA 探针的出现使得能够检测出携带者女性,并对甲型血友病进行孕早期产前诊断。作者简要介绍了他们使用四种 DNA 探针的经验。他们的研究在九个有患病个体的家庭中进行,这些家庭计划在不久的将来再次怀孕。DNA 分析可以在妊娠 8 - 10 周时从绒毛膜绒毛进行孕早期产前诊断。对于男性胎儿,可以确定突变基因是否被遗传。到目前为止,已经基于绒毛膜 DNA 进行了七次产前诊断。