Kochhan L, Lalloz M R, Oldenburg J, McVey J H, Olek K, Brackmann H H, Tuddenham E G, Schwaab R
Institut für Molekurlarbiologische Diagnostic, Bornheim, Germany.
Blood Coagul Fibrinolysis. 1994 Aug;5(4):497-501.
Haemophilia A is a recessive X linked bleeding disorder caused by deficiency or functional abnormality of coagulation factor VIII. This disease usually has no visible phenotype in female carriers; hence, great efforts are made to offer all haemophilia A families accurate carrier diagnosis. Significant progress in this direction was made with the identification of the intron 13 variable number tandem repeat (VNTR), which is hitherto the most informative single marker within the factor VIII gene. The authors have established intron 13 VNTR detection in their laboratory by adapting its analysis to an automated sequencer using different primers of which one is fluorescent dye labelled. With this method, which is more rapid and convenient than that originally described, 67 haemophilia A families of German origin were screened and two new alleles (alleles 17 and 25) were identified. The informativeness of the VNTR in these families based on the patients maternal X chromosomes (134) is about 67%.
甲型血友病是一种隐性X连锁出血性疾病，由凝血因子VIII缺乏或功能异常引起。这种疾病在女性携带者中通常没有明显的表型；因此，人们做出了巨大努力，为所有甲型血友病家庭提供准确的携带者诊断。随着内含子13可变数目串联重复序列（VNTR）的鉴定，在这一方向上取得了重大进展，该序列是迄今为止凝血因子VIII基因中信息最丰富的单一标记。作者通过使用一种荧光染料标记的不同引物，将其分析方法应用于自动测序仪，在其实验室中建立了内含子13 VNTR检测方法。用这种比最初描述的方法更快、更方便的方法，对67个德国血统的甲型血友病家庭进行了筛查，鉴定出两个新的等位基因（等位基因17和25）。基于患者母系X染色体（134条），这些家庭中VNTR的信息含量约为67%。
