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首页> 外文期刊>Iranian journal of public health. >Genetic Diversity and Balancing Selection within the Human Phenylalanine Hydroxylase (PAH) Gene Region in Iranian Population
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Genetic Diversity and Balancing Selection within the Human Phenylalanine Hydroxylase (PAH) Gene Region in Iranian Population

机译：伊朗人口中人类苯丙氨酸羟化酶（PAH）基因区域内的遗传多样性和平衡选择。

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Background:Genetic diversity of three polymorphic markers in the phenylalanine hydroxylase (PAH) gene region including PvuII (a), PAHSTR and MspI were investigated.Methods:Unrelated individuals (n=139) from the Iranian populations were genotyped using primers specific to PAH gene markers including PvuII(a), MspI and PAHSTR. The amplified products for PvuII(a), MspI were digested using the appropriate restriction enzymes and separated on 1.5% agarose. The PAHSTR alleles were identified using polyacrylamide gel electrophoresis followed by silver staining. The exact size of the STR alleles was determined by sequencing. The allele frequency and population status of the alleles were estimated using PHASE, FBAT and GENEPOP software.Results:The estimated degree of heterozygosity for PAHSTR, MspI and PvuII (a) was 66%, 56% and 58%, respectively. The haplotype estimation analysis of the markers resulted in nine informative haplotypes with frequencies ≥5%. Moreover, the results obtained from Ewens-Watterson test for neutrality suggested that the markers were under balancing selection in the Iranian population.Conclusion:These findings suggested the presence of genetic diversity at these three markers in the PAH gene region. Therefore, the markers could be considered as functional markers for linkage analysis of the PAH gene mutations in the Iranian families with the PKU disease.
机译：背景：研究了苯丙氨酸羟化酶（PAH）基因区域中的三个多态性标记的遗传多样性，包括PvuII（a），PAHSTR和MspI。方法：使用PAH基因特异性引物对来自伊朗人群的无关个体（n = 139）进行基因分型。标记包括PvuII（a），MspI和PAHSTR。使用适当的限制酶消化PvuII（a），MspI的扩增产物，并在1.5％琼脂糖上分离。使用聚丙烯酰胺凝胶电泳，然后进行银染，鉴定出PAHSTR等位基因。 STR等位基因的确切大小通过测序确定。用PHASE，FBAT和GENEPOP软件估算等位基因的频率和群体状态。结果：PAHSTR，MspI和PvuII（a）的杂合度估计分别为66％，56％和58％。标记的单倍型估计分析产生了频率≥5％的九种信息性单倍型。此外，从Ewens-Watterson检验的中性结果表明，这些标记在伊朗人群中处于平衡选择状态。结论：这些发现表明，PAH基因区域中这三个标记存在遗传多样性。因此，这些标记可以被认为是对患有PKU疾病的伊朗家庭中PAH基因突变进行连锁分析的功能标记。

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