Kaplan J, Chauvet M L, Briard M L, Gazengel C
Clinique et Unité de Recherche de Génétique Médicale, INSERM U.12, Hôpital Necker, Paris.
Ann Genet. 1988;31(4):221-5.
Our experience over three years (1984-1986) is described in carrier detection and prenatal testing for hemophilia. We have analysed 50 families: 37 hemophilia A and 13 hemophilia B, 22 isolated cases and 28 familial. Eighty-three women belonging to this panel asked for a genetic risk. Pedigree and coagulation studies were performed to estimate genetic risks according to the Bayesian method. At this point, 40% of the females at risk were recognized carriers before the DNA analysis. Molecular biology allowed the detection of only 7% more carriers and the exclusion of 34%. In 19% of the cases, it was impossible to estimate the genetic risk because the families were uninformative for the DNA polymorphisms used. Twenty-two prenatal diagnoses were performed; 3 affected male fetuses were recognized by DNA analysis and pregnancies were terminated. Eleven healthy boys were born.
本文描述了我们在1984年至1986年这三年间进行血友病携带者检测和产前检测的经验。我们分析了50个家庭：37个甲型血友病家庭和13个乙型血友病家庭，其中22例为散发病例，28例为家族性病例。该组中有83名女性要求评估遗传风险。通过绘制系谱图和进行凝血研究，采用贝叶斯方法来评估遗传风险。此时，在进行DNA分析之前，40%有风险的女性被确认为携带者。分子生物学方法仅能多检测出7%的携带者，并排除34%的携带者。在19%的病例中，由于家庭对于所使用的DNA多态性信息不明确，无法评估遗传风险。我们进行了22次产前诊断；通过DNA分析识别出3名患病男胎，并终止了妊娠。另外有11名健康男婴出生。
