在中国人群中鉴定出第408密码子处的一个苯丙酮尿症错义突变。
Identification of a missense phenylketonuria mutation at codon 408 in Chinese.
作者信息
Lin C H, Hsiao K J, Tsai T F, Chao H K, Su T S
机构信息
Graduate Institute of Genetics, National Yang-Ming Medical College, Taipei, Taiwan, Republic of China.
出版信息
Hum Genet. 1992 Aug;89(6):593-6. doi: 10.1007/BF00221944.
A single base transition of G to A at codon 408 of the phenylalanine hydroxylase gene is identified. This missense mutation results in the substitution of Arg408 for Gln408 (R408Q) and accounts for about 5% of phenylketonuria (PKU) chromosomes among Chinese. This mutation is in linkage disequilibrium with restriction fragment length polymorphism haplotype 4. In addition, another mutation (R408W), at the same codon and prevalent on haplotype 2 PKU chromosomes in Caucasians, is identified in a PKU allele of haplotype 41. Previously, this mutation has been observed on a haplotype 44 background in Chinese PKU patients.
在苯丙氨酸羟化酶基因的第408密码子处鉴定出一个从G到A的单碱基转换。这种错义突变导致第408位的精氨酸被谷氨酰胺取代（R408Q），约占中国苯丙酮尿症（PKU）染色体的5%。该突变与限制性片段长度多态性单倍型4处于连锁不平衡状态。此外，在单倍型41的一个PKU等位基因中鉴定出另一种突变（R408W），它位于相同密码子处，在白种人的单倍型2 PKU染色体上普遍存在。此前，在中国PKU患者的单倍型44背景中也观察到了这种突变。
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