Berthier Marie-Thérèse, Couture Patrick, Houde Alain, Paradis Ann-Marie, Sammak Alya'a, Verner Andrei, Deprés Jean-Pierre, Gagné Claude, Gaudet Daniel, Vohl Marie-Claude
Lipid Research Center, CHUL Research Center, Sainte-Foy, Québec, Canada
Mol Genet Metab. 2004 Feb;81(2):140-3. doi: 10.1016/j.ymgme.2003.11.001.
Abetalipoproteinemia (ABL) is a rare autosomal recessive disease characterised by the absence of apolipoprotein B (apoB) containing lipoproteins and, in consequence, very low triglyceride and cholesterol levels. Microsomal triglyceride transfer protein (MTP) has been associated with ABL. A search for sequence variants in the large subunit of MTP in a kindred of 10 individuals from Saguenay-Lac-St Jean area with a propositus exhibiting ABL as well as in four independent patients from the greater Quebec city area and exhibiting very low apoB and LDL-cholesterol levels identified 12 variations. Only one sequence variation, the c.419-420insA, was observed, in the homozygous form, in the abetalipoproteinemic patient. The -493G/-400A/-164T/282G/383T/419-420insA/453T/891C/969T/1151A/2884G haplotype carries the insertion and was found in all members of the family studied. In conclusion, the present study showed that the c.419-420insA alone, in the homozygous form, is a cause of classical recessive inherited ABL in the French-Canadian population.
无β脂蛋白血症（ABL）是一种罕见的常染色体隐性疾病，其特征是缺乏含载脂蛋白B（apoB）的脂蛋白，因此甘油三酯和胆固醇水平极低。微粒体甘油三酯转移蛋白（MTP）与ABL有关。在来自萨格奈-圣让湖地区的一个有10人的家系中，先证者表现为ABL，同时在来自大魁北克市地区的4名独立患者中，他们表现出极低的apoB和低密度脂蛋白胆固醇水平，对MTP大亚基中的序列变异进行搜索，共鉴定出12种变异。仅在无β脂蛋白血症患者中观察到一种纯合形式的序列变异，即c.419 - 420insA。-493G/-400A/-164T/282G/383T/419 - 420insA/453T/891C/969T/1151A/2884G单倍型携带该插入突变，且在所研究的该家系所有成员中均被发现。总之，本研究表明，纯合形式的c.419 - 420insA单独存在是法裔加拿大人群中经典隐性遗传ABL的一个病因。
