德意志民主共和国苯丙酮尿症经典型和轻型表型的单倍型分析。
Haplotype analysis of classical and mild phenotype of phenylketonuria in the German Democratic Republic.
作者信息
Herrmann F H, Wulff K, Wehnert M, Seidlitz G, Güttler F
机构信息
Institute of Medical Genetics, Ernst-Moritz-Arndt-University, Greifswald, GDR.
出版信息
Clin Genet. 1988 Sep;34(3):176-80. doi: 10.1111/j.1399-0004.1988.tb02859.x.
The restriction fragment length polymorphism (RFLP)-haplotypes have been analysed in 16 families from the northern part of the GDR at risk for classical and mild phenylketonuria (PKU). Ten different RFLP haplotypes associated with the normal and mutant phenylalanine hydroxylase (PAH) alleles were identified. Of the 32 mutant alleles analysed, 29 (90.6%) were associated with haplotypes 1, 2, 3 and 4; 53.1% of the mutant alleles were linked with haplotype 2. The distribution of RFLP haplotypes in 16 patients of clinical different PKU phenotypes (classical and mild) is reported.
对民主德国北部16个有患典型和轻度苯丙酮尿症（PKU）风险的家庭进行了限制性片段长度多态性（RFLP）单倍型分析。鉴定出了10种与正常和突变型苯丙氨酸羟化酶（PAH）等位基因相关的不同RFLP单倍型。在分析的32个突变等位基因中，29个（90.6%）与单倍型1、2、3和4相关；53.1%的突变等位基因与单倍型2连锁。报告了16例临床不同PKU表型（典型和轻度）患者的RFLP单倍型分布情况。
Zotero 插件