一个患有X连锁肾上腺脑白质营养不良的家族中，ALD基因ATP结合区域的点突变。
A point mutation at ATP-binding region of the ALD gene in a family with X-linked adrenoleukodystrophy.
作者信息
Matsumoto T, Kondoh T, Masuzaki H, Harada N, Matsusaka T, Kinoshita E, Takeo G, Tsujihata M, Suzuki Y, Tsuji Y
机构信息
Department of Pediatrics, Nagasaki University School of Medicine, Japan.
出版信息
Jpn J Hum Genet. 1994 Sep;39(3):345-51. doi: 10.1007/BF01874053.
A prenatal diagnosis was performed in a family with X-linked adrenoleukodystrophy (ALD). A fetus was at high risk of suffering the disease by segregation analysis and by very long chain fatty acid-CoA synthetase activity assay. A transition (G to A) at codon 617 of the candidate ALD gene was detected by reverse transcription PCR (RT-PCR) based sequencing of the fetal liver RNA. The mutation was located in highly conserved ATP-binding site in this gene and deduced amino acid transversion R617H was thought to be the cause of ALD in this family.
对一个患有X连锁肾上腺脑白质营养不良（ALD）的家庭进行了产前诊断。通过系谱分析和极长链脂肪酸辅酶A合成酶活性测定，胎儿患该病的风险很高。通过基于逆转录PCR（RT-PCR）的胎儿肝脏RNA测序，在候选ALD基因的第617密码子处检测到一个G到A的转换。该突变位于该基因高度保守的ATP结合位点，推导的氨基酸颠换R617H被认为是该家族ALD的病因。
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