Rebaï Maha, Kharrat Najla, Ayadi Imen, Rebaï Ahmed
Bioinformatics Unit, Centre of Biotechnology of Sfax, Sfax, Tunisia.
Ann Hum Biol. 2006 May-Jun;33(3):319-29. doi: 10.1080/03014460600621977.
The Angiotensin-Converting Enzyme (ACE) is a candidate gene in the aetiology of several common diseases. The study of the haplotype structure of this gene is of interest in diagnosis and in pharmacogenomics.
The study investigated the haplotype profile of single nucleotide polymorphisms (SNPs) within the ACE gene in the Tunisian population and compared it with other populations.
Five SNPs (rs1800764, rs4291, rs4309, rs4331, rs4340) covering a region of 15.6 kb of the ACE gene were typed by PCR-digestion in a sample of 100 healthy subjects.
All SNPs were polymorphic and in Hardy-Weinberg equilibrium. A total of 21 haplotypes were identified but only eight had a frequency of more than 1%. The four most common haplotypes had a cumulative frequency of 87.4%. The 'Yin-Yang' phenomenon (the two major haplotypes are complementary at all sites) was found. Linkage disequilibrium between all pairs of loci was highly significant (p<10-5). A simple and efficient statistical procedure was used to identify three important SNPs.
The Tunisian population showed a different haplotype structure from the European one for the ACE gene and three important SNPs were identified. These will be very helpful in future association studies in the Tunisian and North African populations.
血管紧张素转换酶（ACE）是几种常见疾病病因学中的候选基因。对该基因单倍型结构的研究在诊断和药物基因组学方面具有重要意义。
本研究调查了突尼斯人群中ACE基因内单核苷酸多态性（SNP）的单倍型谱，并与其他人群进行比较。
采用PCR酶切法对100名健康受试者样本中覆盖ACE基因15.6 kb区域的5个SNP（rs1800764、rs4291、rs4309、rs4331、rs4340）进行基因分型。
所有SNP均具有多态性且处于Hardy-Weinberg平衡状态。共鉴定出21种单倍型，但只有8种频率超过1%。四种最常见的单倍型累积频率为87.4%。发现了“阴阳”现象（两种主要单倍型在所有位点互补）。所有位点对之间的连锁不平衡高度显著（p<10-5）。采用一种简单有效的统计方法鉴定出三个重要的SNP。
突尼斯人群ACE基因的单倍型结构与欧洲人群不同，并鉴定出三个重要的SNP。这些将对突尼斯和北非人群未来的关联研究非常有帮助。
