一名日本苯丙酮尿症（PKU）患者出现了一种新的单碱基替换。
A new single base substitution in a Japanese phenylketonuria (PKU) patient.
作者信息
Shirahase W, Oya N, Shimada M
机构信息
Department of Pediatrics, Shiga University of Medical Science, Japan.
出版信息
Brain Dev. 1991 Jul;13(4):283-4. doi: 10.1016/s0387-7604(12)80064-7.
DNA analysis on phenylalanine hydroxylase (PAH) gene was performed in four Japanese PKU patients. By the Southern analysis, three patients were confirmed to be homozygous for haplotype 4, and the other one was homozygous for haplotype 2. Sequence analysis on the mutant PAH gene of this haplotype 2 patient, who was born to first-cousin parents, disclosed it to be a C-to-T transition in exon 7. This transition causes the substitution of Arg261 codon to a termination codon.
对四名日本苯丙酮尿症（PKU）患者进行了苯丙氨酸羟化酶（PAH）基因的DNA分析。通过Southern分析，三名患者被确认为单倍型4纯合子，另一名患者为单倍型2纯合子。对这名由近亲父母生育的单倍型2患者的突变PAH基因进行序列分析，发现其为外显子7中C到T的转换。这种转换导致Arg261密码子被替换为终止密码子。
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