Clinical utility gene card for: Abetalipoproteinaemia – Update 2014
Clinical utility gene card for: Abetalipoproteinaemia – Update 2014
复制标题
无β脂蛋白血症的临床实用基因卡 – 2014 年更新
DOI：
10.1038/ejhg.2014.224
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发表时间：
2014
影响因子：
5.2
通讯作者：
R. Hegele
中科院分区：
文献类型：
--
作者：
J. Burnett;D. Bell;A. Hooper;R. Hegele
具有至少20个碱基对侧翼内含子序列的基因组-外显子DNA的DNA测序。蛋白质印迹法可用于检测截短的apoB种类，其>全长蛋白质大小的30%，以估计变体在APOB内的位置。如果蛋白质印迹法为阴性，则建议对基因的5 '30%（外显子1至25）进行测序。如果怀疑纯合子家族性低β脂蛋白血症，并且无法发现APOB的变异，则考虑对MTTP进行测序。
DNA sequencing of genomic-exonic DNA with at least 20 bp of flanking intronic sequence. Western blotting can be used to detect truncated apoB species that are> 30% of full-length protein size, to estimate where the variant occurs within APOB. If western blotting is negative, sequencing of the 5'30% of the gene (exons 1 through 25) is recommended. Where homozygous familial hypobetalipoproteinaemia is suspected and a variant (s) in APOB cannot be found, consider sequencing MTTP.