Wulff K, Wehnert M, Schütz M, Seidlitz G, Herrmann F H
Institute of Medical Genetics, Ernst-Moritz-Arndt-University, Greifswald, G.D.R.
Prenat Diagn. 1989 Jun;9(6):421-5. doi: 10.1002/pd.1970090607.
Prenatal diagnosis of classic phenylketonuria (PKU) was performed after chorionic villus sampling by means of linked restriction fragment length polymorphisms (RFLPs) using the cDNA probe ph PAH 247 (Kwok et al. (1985) Biochemistry, 24, 556-561). We report in this paper a PKU family who were only informative for RFLP analysis by a combination of two RFLPs on the basis of haplotype determination of the normal and mutant phenylalanine hydroxylase (PAH) alleles. The DNA analysis detected a PKU fetus homozygous for mutant PAH alleles and the mother opted for termination in the 12th week of gestation.
采用cDNA探针ph PAH 247，通过连锁限制片段长度多态性（RFLP）技术，在绒毛取样后对经典型苯丙酮尿症（PKU）进行产前诊断（Kwok等人，（1985年）《生物化学》，24卷，556 - 561页）。本文报告了一个PKU家系，基于正常和突变型苯丙氨酸羟化酶（PAH）等位基因的单倍型测定，仅通过两个RFLP的组合对RFLP分析提供信息。DNA分析检测到一个PAH突变等位基因纯合的PKU胎儿，母亲选择在妊娠第12周终止妊娠。
