Sequence analysis, frequency and ethnic distribution of VNTR polymorphism in the 5′-untranslated region of the human prostacyclin synthase gene (CYP8A1)

被引：7

作者：

Chevalier, D

Allorge, D

Lo-Guidice, JM

Cauffiez, C

Lepetit, C

Migot-Nabias, F

Kenani, A

Lhermitte, M

Broly, F

机构：

[1] Fac Med Lille, EA 2679, F-59045 Lille, France

[2] Ctr Int Rech Med Franceville, Franceville, Gabon

[3] Fac Med Monastir, Biochim Lab, Monastir, Tunisia

来源：

PROSTAGLANDINS & OTHER LIPID MEDIATORS | 2002年 / 70卷 / 1-2期

关键词：

prostacyclin synthase (CYP8A1); variable number of tandem repeats (VNTRs); 5 '-flanking region polymorphism; ethnic group;

D O I：

10.1016/S0090-6980(02)00016-3

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 [生物化学与分子生物学]; 081704 [应用化学];

摘要：

The prostacyclin synthase enzyme (CYP8A1, EC 5.3.99.4) is the unique member of family 8 in the cytochrome P450 superfamily. Inheritable interindividual differences in prostacyclin production may be implicated in the pathogenesis of human vascular diseases. Recently, we functionally characterized a variable number of tandem repeat (VNTR) polymorphism in the 5'-proximal regulatory region of CYP8A1. In this study, we extended the CYP8A1 VNTR polymorphism analysis using a panel of DNA samples from distinct ethnic populations: Tunisians, Gaboneses and French Caucasians. A total of nine VNTR were detected, three of which represent new variants in the CYP8A1 promoter region. Differences among the three ethnic panels in the frequency of the VNTR variants were observed. This study represents the first multi-population-based analysis of the frequency and distribution of VNTR polymorphism affecting the CYP8A1 promoter. (C) 2002 Elsevier Science Inc. All rights reserved.

引用

页码：31 / 37

页数：7

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