Andrade Edilene S, Fracasso Nádia C A, Strazza Júnior Paulo S, Simões Aguinaldo L, Mendes-Junior Celso T
Departamento de Genética, Faculdade de Medicina de Ribeirão Preto, Universidade de São Paulo, 14049-900 Ribeirão Preto-SP, Brazil.
Departamento de Biologia, Faculdade de Filosofia, Ciências e Letras de Ribeirão Preto, Universidade de São Paulo, 14040-901 Ribeirão Preto-SP, Brazil.
Leg Med (Tokyo). 2017 Jan;24:78-83. doi: 10.1016/j.legalmed.2016.12.003. Epub 2016 Dec 18.
Panels composed of Single Nucleotide Polymorphisms (SNPs) in genes related to pigmentation, when associated with different phenotypes, may assist in predicting the physical appearance of an individual, being very useful in forensic caseworks. We evaluated the association of seven OCA2-HERC2 SNPs and haplotypes with pigmentation characteristics (eye, skin, hair and freckles) in the highly admixed and phenotypically heterogeneous Brazilian population. All the seven SNPs evaluated presented one allele associated with phenotypes from at least two pigmentation features and the alternative allele associated with the opposite phenotypes from the same trait. The genotypic associations followed the same pattern for all seven SNPs. Nine haplotypes were observed in our sample and eight were associated with at least two pigmentation traits. Such SNPs and haplotypes could be deemed as good predictors for the presence of freckles and for skin, eye and hair pigmentation in the Brazilian population.
由与色素沉着相关基因中的单核苷酸多态性（SNP）组成的面板，当与不同表型相关联时，可能有助于预测个体的外貌，在法医案件工作中非常有用。我们评估了七个OCA2-HERC2 SNP和单倍型与高度混合且表型异质的巴西人群中色素沉着特征（眼睛、皮肤、头发和雀斑）的关联。所评估的所有七个SNP都呈现出一个与至少两种色素沉着特征的表型相关的等位基因，以及与同一性状相反表型相关的另一个等位基因。所有七个SNP的基因型关联都遵循相同的模式。在我们的样本中观察到九个单倍型，其中八个与至少两种色素沉着特征相关。这些SNP和单倍型可被视为巴西人群中雀斑以及皮肤、眼睛和头发色素沉着情况的良好预测指标。
