Herrmann F H, Wehnert M, Schröder W
Institute of Medical Genetics Ernst-Moritz-Arndt-University, Greifswald, GDR.
Folia Haematol Int Mag Klin Morphol Blutforsch. 1990;117(4):601-7.
Since 1986 the genomic diagnosis of haemophilia A and B in the GDR is realized as a national programme. Until Aug. 1989 56 families at risk of haemophilia A are analysed using RFLPs of different intragenic and intergenic probes (BclI/F8e 16-19, KpnI-XbaI/int 22, TaqI/St 14.1). 117 out of 162 females at risk being heterozygous were identified as carriers, in 40 cases the carrier state was excluded, and in 5 females the data were not informative. Prenatal diagnosis was offered to 93 carriers in reproductive age. Six genomic prenatal diagnoses in haemophilia A were performed. In four patients different partial deletions of factor VIII:C gene were found. 10 families of haemophilia B were analysed using intragenic and intergenic probes (P 1; pX58dIIIc). 14 females were identified as carriers, 11 were excluded. The application of direct and indirect gene diagnosis in haemophilia is discussed.
自1986年以来，民主德国将甲型和乙型血友病的基因诊断作为一项国家计划来实施。截至1989年8月，使用不同基因内和基因间探针（BclI/F8e 16 - 19、KpnI - XbaI/int 22、TaqI/St 14.1）对56个有甲型血友病风险的家庭进行了分析。162名有风险的女性中，117名杂合子被确定为携带者，40例排除了携带者状态，5名女性的数据无信息价值。为93名育龄期携带者提供了产前诊断。进行了6例甲型血友病的基因产前诊断。在4例患者中发现了不同的凝血因子VIII:C基因部分缺失。使用基因内和基因间探针（P 1；pX58dIIIc）对10个乙型血友病家庭进行了分析。14名女性被确定为携带者，11名被排除。文中讨论了直接和间接基因诊断在血友病中的应用。
