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本文调查了33个丹麦家系,每个家系至少有一个苯两酮尿症(PKU)患儿,分析了双亲染色体苯丙氨酸羟化酶位点的8个多态性限制酶部位。通过测定66个正常染色体和66个携带突变基因的染色体的单倍型,作者发现,至少有2个单倍型较多存在于异常染色体上,而较少出现在另一染色体上。总的说来,尽管不存在PKU染色体所特有的专一单倍型,但在PKU染色体和正常染色体上各种单倍型的相对频率仍然具有显著差异。没有观察到在任何单一多态位点和突
We examined 33 Danish pedigrees, each with at least one child with phenylketonuria (PKU), and analyzed the eight polymorphic restriction enzyme sites of the parent phenylalanine hydroxylase site. By measuring the haplotypes of 66 normal chromosomes and 66 chromosomes carrying the mutated gene, the authors found that at least two haplotypes were found on the abnormal chromosomes and less on the other chromosomes. In summary, the relative frequencies of the haplotypes on the PKU chromosomes and on the normal chromosomes are still significantly different although there is no specific haplotype that is characteristic of the PKU chromosomes. No single polymorphic loci and protrusions were observed