The c.419-420insA in the MTP gene is associated with abetalipoproteinemia among French-Canadians

被引:21
作者
Berthier, MT
Couture, P
Houde, A
Paradis, AM
Sammak, A
Verner, A
Deprés, JP
Gagné, C
Gaudet, D
Vohl, MC [1 ]
机构
[1] CHUL Res Ctr, Lipid Res Ctr, St Foy, PQ, Canada
[2] Univ Laval, Dept Food Sci & Nutr, Quebec City, PQ, Canada
[3] McGill Univ, Montreal, PQ, Canada
[4] Genome Quebec Innovat Ctr, Montreal, PQ, Canada
[5] Quebec Heart Inst, St Foy, PQ, Canada
[6] Complexe Hosp Sangamie, Dyslipidemia Diabet & Atherosclerosis Grp, Saguenay, PQ, Canada
基金
加拿大健康研究院;
关键词
MTP; apolipoprotein B; abetalipoproteinemia; gene mutations;
D O I
10.1016/j.ymgme.2003.11.001
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
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. (C) 2003 Elsevier Inc. All rights reserved.
引用
收藏
页码:140 / 143
页数:4
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