支链α-酮酸脱氢酶E1α亚基基因（BCKDHA）中的无义突变（R242X）是枫糖尿症的病因。突变简讯第160号。在线版。
A nonsense mutation (R242X) in the branched-chain alpha-keto acid dehydrogenase E1alpha subunit gene (BCKDHA) as a cause of maple syrup urine disease. Mutations in brief no. 160. Online.
作者信息
Chinsky J, Appel M, Almashanu S, Costeas P, Ambulos N, Carmi R
机构信息
Division of Human Genetics, Departments of Pediatrics and Obstetrics/Gynecology, and Department of Microbiology/Immunology, University of Maryland School of Medicine, Baltimore, MD, USA.
出版信息
Hum Mutat. 1998;12(2):136. doi: 10.1002/(SICI)1098-1004(1998)12:2<136::AID-HUMU11>3.0.CO;2-0.
Mutation analysis of DNA from cultured amniocytes with absent branched-chain alpha-ketoacid dehydrogenase activity revealed a C to T transition producing a nonsense mutation (R242X) in exon 7 of the gene encoding the E1a subunit of this multienzme complex (BCKDHA). This pregnancy occured in a large consanguinous pedigree with mutiple individuals with maple syrup urine disease (MSUD). PCR amplification of the region surrounding exon 7 allowed the identification of this mutation as well as two other previously identified mutations which cause MSUD.
对培养的羊膜细胞中缺乏支链α-酮酸脱氢酶活性的DNA进行突变分析，结果显示在编码该多酶复合物E1a亚基（BCKDHA）的基因外显子7中发生了一个从C到T的转换，产生了一个无义突变（R242X）。此次妊娠发生在一个患有枫糖尿症（MSUD）的多个个体的大型近亲家系中。外显子7周围区域的PCR扩增使得能够鉴定出该突变以及另外两个先前鉴定出的导致MSUD的突变。
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