人类髓鞘碱性蛋白基因STR位点的变异：葡萄牙北部和圣多美和普林西比。
Variation in STR loci of the human myelin basic protein gene: north Portugal and São Tomé e Príncipe.
作者信息
Pereira L, Gusmão L, Prata M J, Mota P, Trovoada M J, Amorim A
机构信息
Instituto de Patologia e Imunologia Molecular da Universidade do Porto (IPATIMUP), Portugal.
出版信息
Hum Biol. 2000 Jun;72(3):481-7.
Allele frequencies and a single-base substitution polymorphism for 3 short tandem repeat (STR) loci of the human myelin basic protein (MBP) gene were evaluated in North Portugal and São Tomé e Príncipe. Strong linkage disequilibrium between loci MBPB and MBPC was found. However, the patterns of nonrandom allelic associations were very different in the 2 populations: levels of haplotypic diversity and heterozygosity were higher in the São Tomé population. Similarly, a difference in the frequency of base substitution G-->A at position 124 was found: the frequency reached 4.1% in North Portugal and 0.5% in São Tomé. In both populations it was always found to be associated with haplotypes B10/C11 and B12/C9.
在葡萄牙北部和圣多美和普林西比，对人类髓鞘碱性蛋白（MBP）基因的3个短串联重复序列（STR）位点的等位基因频率和单碱基取代多态性进行了评估。发现位点MBPB和MBPC之间存在强连锁不平衡。然而，这两个群体中非随机等位基因关联的模式非常不同：圣多美群体中的单倍型多样性和杂合度水平更高。同样，在第124位发现碱基取代G→A的频率存在差异：在葡萄牙北部该频率达到4.1%，在圣多美为0.5%。在这两个群体中，它总是与单倍型B10/C11和B12/C9相关。
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