Chen S H, Hsiao K J, Lin L H, Liu T T, Tang R B, Su T S
Graduate Institute of Microbiology and Immunology, National Yang-Ming Medical College, Taiwan, Republic of China.
Hum Genet. 1989 Feb;81(3):226-30. doi: 10.1007/BF00278993.
Using a human phenylalanine hydroxylase cDNA probe, the restriction fragment length polymorphisms at the human phenylalanine hydroxylase locus have been determined with the restriction enzymes BglII, PvuII, EcoRI + BamHI, MspI, XmnI, HindIII and EcoRV. The frequency of the observed heterozygosity of the restriction site polymorphisms at this locus in a Chinese population is approximately 54%, which is significantly lower than that in Caucasians. No DNA rearrangement or deletion of the phenylalanine hydroxylase locus was detected among mutant phenylalanine hydroxylase genes in seven Chinese classical phenylketonuria (PKU) families. Haplotype analysis of these seven families revealed that the mutant alleles belonged to five different haplotypes, i.e. haplotype 4, 11 and three unreported haplotypes. The majority of normal and mutant phenylalanine hydroxylase genes are confined to hyplotype 4. These results indicate that approximately 42% of Chinese PKU families are informative for prenatal diagnosis of PKU when eight restriction sites linked to the phenylalanine hydroxylase locus are examined.
利用人苯丙氨酸羟化酶cDNA探针，使用限制酶BglII、PvuII、EcoRI + BamHI、MspI、XmnI、HindIII和EcoRV确定了人苯丙氨酸羟化酶基因座的限制性片段长度多态性。在中国人群中，该基因座限制性位点多态性的观察杂合度频率约为54%，显著低于白种人。在7个中国经典苯丙酮尿症（PKU）家系的突变型苯丙氨酸羟化酶基因中，未检测到苯丙氨酸羟化酶基因座的DNA重排或缺失。对这7个家系的单倍型分析表明，突变等位基因属于5种不同的单倍型，即单倍型4、11以及3种未报道的单倍型。大多数正常和突变型苯丙氨酸羟化酶基因局限于单倍型4。这些结果表明，当检测与苯丙氨酸羟化酶基因座连锁的8个限制性位点时，约42%的中国PKU家系可用于PKU的产前诊断。
