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突尼斯人群中载脂蛋白B基因3'端VNTR位点的多态性:与其他种族群体的差异。

Polymorphism at VNTR locus 3 to the apolipoprotein B gene in a Tunisian population: difference from other ethnic groups.

作者信息

Buresi C, Desmarais E, Vigneron S, Ben Rayana C, Chaabouni H, Roizes G

机构信息

INSERM U 249, Montpellier, France.

出版信息

Genet Epidemiol. 1995;12(4):381-9. doi: 10.1002/gepi.1370120406.

Abstract

The Hypervariable region (HVR) detected at the 3' end of the apolipoprotein B (Apo B) locus has been the subject of numerous studies. As for many VNTR (variable number of tandem repeat), this locus is highly polymorphic and until now about 20 alleles have been described. The genotype distribution in all populations follows the Hardy-Weinberg predictions. A bimodal pattern of allele frequency distribution is apparent in all Caucasoid populations. We have analyzed the frequencies of different alleles in a Tunisian population (123 individuals) by the polymerase chain reaction technique and compared our results to those obtained in several ethnic groups. It appears that the distributions of the allele frequencies are very different: for Caucasoid populations, there are two peaks of frequencies for alleles with 36 and 48 repeats, but alleles of intermediate lengths are more frequent. Hixson et al. [(1993) Hum Genet 91:475-479] have shown a similar difference between black and white American populations. We found the same results in a black African group. Some of the repeat units of this HVR contain a Ssp I restriction site and digestion of the PCR products by this enzyme gives different patterns on gradient acrylamide gel [Desmarais et al., 1993, Nucleic Acids Res 21:2179-2184.] The DNA of African individuals (42) has been analyzed to discover the origin of this new allele. Preliminary results indicate that these particular alleles probably arose by introgression from the African population into the Tunisian one.

摘要

载脂蛋白B(Apo B)基因座3'端检测到的高变区(HVR)一直是众多研究的主题。与许多串联重复可变数(VNTR)一样,该基因座具有高度多态性,到目前为止已描述了约20个等位基因。所有人群中的基因型分布均符合哈迪-温伯格预测。在所有高加索人群中,等位基因频率分布呈现双峰模式。我们通过聚合酶链反应技术分析了突尼斯人群(123人)中不同等位基因的频率,并将我们的结果与几个种族群体的结果进行了比较。结果表明,等位基因频率分布差异很大:对于高加索人群,36次和48次重复的等位基因有两个频率峰值,但中等长度的等位基因更为常见。希克森等人[(1993年)《人类遗传学》91:475 - 479]已经表明美国黑人和白人种群之间存在类似差异。我们在一个非洲黑人群体中也发现了相同的结果。该HVR的一些重复单元包含一个Ssp I限制性酶切位点,用这种酶消化PCR产物在梯度丙烯酰胺凝胶上会产生不同的模式[德马雷等人,1993年,《核酸研究》21:2179 - 2184]。我们分析了42名非洲个体的DNA,以发现这个新等位基因的起源。初步结果表明,这些特定的等位基因可能是通过从非洲人群渗入突尼斯人群而产生的。

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