Lipoprotein lipase deficiency resulting from a nonsense mutation in exon 3 of the lipoprotein lipase gene.
Lipoprotein lipase deficiency resulting from a nonsense mutation in exon 3 of the lipoprotein lipase gene.
复制标题
DOI：
--
复制
发表时间：
1990-07
影响因子：
9.8
通讯作者：
M. Emi;A. Hata;M. Robertson;P. Iverius;R. Hegele;J. Lalouel
中科院分区：
文献类型：
--
作者：
M. Emi;A. Hata;M. Robertson;P. Iverius;R. Hegele;J. Lalouel
在一名患有脂蛋白脂肪酶缺乏症的德国和波兰血统男性患者的DNA中，对与脂蛋白脂肪酶基因编码区相对应的所有九个外显子和内含子-外显子边界进行测序后，发现了一个C-T转变，导致用停止信号取代通常决定成熟酶第106位谷氨酰胺的密码子。与该位置的等位基因特异性寡核苷酸杂交，证实患者为该突变的纯合子。这种突变必须导致一种急剧截断的蛋白质的合成，这是患者注意到的酶缺陷的原因。
In DNA from a male patient of German and Polish ancestry who has lipoprotein lipase deficiency, sequencing of all nine exons and intron-exon boundaries corresponding to the coding region of the lipoprotein lipase gene detected a C----T transition leading to the substitution of a stop signal for the codon that normally determines a glutamine at position 106 of the mature enzyme. Hybridization with allele-specific oligonucleotides at this position established that the patient was homozygous for this mutation. This mutation must lead to the synthesis of a sharply truncated protein, accounting for the enzymatic deficiency noted in the patient.