Riess O, Michel A, Speer A, Cobet G, Coutelle C
Neurological Clinic, Human Genetics, Charité Hospital, Humboldt University, Berlin, GDR.
Clin Genet. 1987 Oct;32(4):209-15. doi: 10.1111/j.1399-0004.1987.tb03303.x.
The phenylketonuria (PKU) dispensary of the Children's Hospital of the Charité, Berlin, GDR, cares for about 140 affected families, representing about one-third of all PKU families in the GDR. Of these families, 15 expressed their desire for an additional child given the availability of a reasonably reliable prenatal diagnosis procedure. They were investigated by linked RFLP analysis applying a phenylalanine-hydroxylase-cDNA probe. Full genetic predictability for prospective fetuses could be obtained for all of them. In eight cases this was possible by the use of one restriction enzyme, and in the remaining seven by a combination of the information from two restriction-enzyme patterns. No recombination between linked RFLP and the PKU phenotype could be observed in 40 meioses from the investigation of eight families with two affected children each.
民主德国柏林夏里特儿童医院的苯丙酮尿症（PKU）诊疗所负责照料约140个患病家庭，约占民主德国所有PKU家庭的三分之一。在这些家庭中，鉴于已有相当可靠的产前诊断程序，有15个家庭表示希望再要一个孩子。对他们进行了连锁RFLP分析，采用苯丙氨酸羟化酶cDNA探针。所有家庭的胎儿都能实现完全的基因可预测性。其中8个案例使用一种限制酶即可实现，其余7个案例则通过结合两种限制酶图谱的信息来实现。在对8个各有两个患病孩子的家庭进行调查的40次减数分裂中，未观察到连锁RFLP与PKU表型之间发生重组。
