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一个曾生育过经典型苯丙酮尿症(PKU)患儿的家庭要求对妊娠的胎儿进行产前诊断。应用苯丙氨酸羟化酶基因探针对该家系成员进行了限制性内切酶酶切位点多态性分析,鉴定出与 PKU 致病基因相连锁的遗传标记,据此产前诊断出胎儿正常.胎儿分娩后经过半年的随访和实验室的验证,完全证实产前诊断的结果.
A family who has had a child with classic phenylketonuria (PKU) requires a prenatal diagnosis of a pregnant fetus. The phenylalanine hydroxylase gene probe was used to analyze the polymorphism of restriction endonucleases in this pedigree and to identify the genetic markers linked with PKU pathogenic genes Fetal normal fetus after childbirth after six months of follow-up and laboratory verification, fully confirmed the results of prenatal diagnosis.