Frossard P M, Lestringant G G
Departments of Pathology, Faculty of Medicine and Health Sciences, UAE University, and Internal Medicine, Tawam Hospital, Al-Ain, United Arab Emirates.
Ann Saudi Med. 1999 Nov-Dec;19(6):490-4. doi: 10.5144/0256-4947.1999.490.
Among all the polymorphic markers available to date, a hypervariable region located in the 3' of the human apolipoprotein B gene has been extensively studied in global populations throughout the world.
Using a polymerase chain reaction-based assay, we investigated the allele and genotype frequency distributions of the alleles (corresponding to repeats of a 30 base-pair core DNA sequence) of this hypervariable region in a group of 367 unrelated nationals (201 males, 166 females) from the United Arab Emirates.
We found 18 different alleles, ranging from 21 to 55 repeats, making up 51 genotypes that occurred in Hardy-Weinberg proportions and were associated with a heterozygosity index of 80.9%. The allele frequency distribution was different from that of other populations in that it was trimodal, with peaks at 31, 37 and 47 repeats, with corresponding relative frequencies of 16.1%, 25.1% and 6.0%. A four-allele model, which allowed comparisons with other reports, revealed distribution differences with all other ethnic groups except South Asians and Serbs.
This marker is very informative for the Emirati population, and will be very useful for UAE-specific DNA fingerprinting. It will also be a valuable tool for assessing the role of apolipoprotein B in cardiovascular diseases.
在目前所有可用的多态性标记中，位于人类载脂蛋白B基因3'端的一个高变区已在全球人群中得到广泛研究。
我们采用基于聚合酶链反应的检测方法，对一组来自阿拉伯联合酋长国的367名无亲缘关系的国民（201名男性，166名女性）中该高变区等位基因（对应于一个30碱基对核心DNA序列的重复）的等位基因和基因型频率分布进行了研究。
我们发现了18种不同的等位基因，重复次数从21到55次不等，构成了51种基因型，这些基因型符合哈迪-温伯格比例，杂合度指数为80.9%。等位基因频率分布与其他人群不同，呈三峰模式，在31、37和47次重复处出现峰值，相应的相对频率分别为16.1%、25.1%和6.0%。一个四等位基因模型（可用于与其他报告进行比较）显示，除南亚人和塞尔维亚人外，与所有其他种族群体的分布存在差异。
该标记对阿联酋人群具有很高的信息量，对阿联酋特有的DNA指纹识别非常有用。它也将是评估载脂蛋白B在心血管疾病中作用的一个有价值的工具。
