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首页> 外文期刊>Human Biology: Official Publication of the Human Biology Council >Population genetics of four PKLR intragenic polymorphisms in Portugal and Sao Tome e Principe (Gulf of Guinea).
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Population genetics of four PKLR intragenic polymorphisms in Portugal and Sao Tome e Principe (Gulf of Guinea).

机译：葡萄牙和圣多美与普林西比（几内亚湾）四种PKLR基因内多态性的群体遗传学。

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摘要

Four intragenic PKLR polymorphisms [1705A/C, 1738C/T. T10/19, and (ATT)n microsatellite] were studied in normal population samples of Central Portugal and Sao Tome e Principe, a small archipelago located in the Gulf of Guinea, West Africa. For all loci, the observed genotype distributions do not deviate from Hardy-Weinberg equilibrium. The allele frequencies found in the Portuguese population are similar to those previously described in Caucasian populations. Mother-child pair analysis for the (ATT)n microsatellite does not show deviations to the Mendelian rules. In Sao Tome e Principe the biallelic polymorphisms 1705A/C, 1738C/T, and T10/19 presented inverse allelic frequencies when compared with the Portuguese population. Two new alleles were found at the (ATT)n microsatellite. Significant statistical differences were found between both populations. The results showed that Sao Tomeans had higher haplotype diversity and lower linkage disequilibrium among the polymorphic sites. The PKLR intragenic polymorphisms, commonly used in haplotype analysis with the gene mutations in PK-deficient patients, can thus be successfully employed in anthropological genetics.
机译：四个基因内PKLR多态性[1705A / C，1738C / T。 T10 / 19和（ATT）n微卫星]在葡萄牙中部和西非几内亚湾的一个小群岛圣多美和普林西比的正常种群样本中进行了研究。对于所有基因座，观察到的基因型分布均未偏离Hardy-Weinberg平衡。在葡萄牙人群中发现的等位基因频率与先前在白种人人群中描述的等位基因频率相似。 （ATT）n微卫星的母子对分析没有显示出与孟德尔规则的偏差。在圣多美和普林西比，与葡萄牙人的种群相比，双等位基因多态性1705A / C，1738C / T和T10 / 19具有相反的等位基因频率。在（ATT）n微卫星上发现了两个新的等位基因。在两个人群之间发现了显着的统计学差异。结果表明，圣多美人在多态性位点之间具有较高的单倍型多样性和较低的连锁不平衡性。 PKLR基因内多态性通常用于单倍型分析中，缺乏PK的患者具有基因突变，因此可以成功地用于人类学遗传学中。

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