RESUMO
Objective To predict the pigmentation phenotypes of Chinese populations from different language families, analyze the differences and provide reference data for forensic anthropology and genetics. Methods The HIrisPlex-S multiplex amplification system with 41 loci related to pigmentation phenotypes was constructed in the laboratory, and 2 666 DNA samples of adult males of 17 populations from six language families, including Indo-European, Sino-Tibetan, Altaic, Hmong-Mien, Tai-Kadai and Austro-Asiatic language families distributed in different regions of China were genotyped. The pigmentation phenotype category of each individual was predicted using the online prediction system （https://HIrisPlex.erasmusmc.nl/）, and then the output data were statistically analyzed. Results About 1.92% of the individuals of Asian-European admixed populations from Indo-European and Altaic language families had blue eyes and 34.29% had brown or gold hair. The phenotypes of the color of eyes and hair of other populations had no significant difference, all individuals had brown eyes and black hair. There were differences in skin color of populations of different language families and geographical areas. The Indo-European language family had the lightest skin color, and the Austro-Asiatic language family had the darkest skin color; the southwestern minority populations had a darker skin color than populations in the plain areas. Conclusion The prediction results of pigmentation phenotype of Chinese populations are consistent with the perception of the appearance of each population, proving the reliability of the system. The color of eyes and hair are mainly related to ancestral components, while the skin color shows the differences between language families, and is closely related to geographical distribution of populations.
Assuntos
Adulto , Humanos , Masculino , Povo Asiático/genética , China , Cor de Olho/genética , Antropologia Forense , Genética Forense/métodos , Idioma , Fenótipo , Polimorfismo de Nucleotídeo Único , Reprodutibilidade dos Testes , Pigmentação da Pele/genéticaRESUMO
Molecular identification of human externally visible characteristic （EVC）, which is also called forensic DNA phenotyping （FDP）, can serve as a "molecular witness" when the routine investigations can not determine the identity of a criminal and the DNA database find no match after comparison. FDP could assist in investigation of cases by inferring the externally visible phenotypic characteristics from DNA obtained from the biological materials left at crime scenes, or unknown corpses. In the last few years, studies on the selection of EVC related molecular markers have been reported frequently and some of the EVCs could already be inferred with a certain accuracy, such as hair color and iris color. Further fundamental research on molecular genetics of human external phenotypic characteristics, as well as the continuous innovation on molecular biological technology would promote the rapid development of DNA molecular identification of human phenotypic characteristics.
Assuntos
Humanos , DNA/genética , Bases de Dados de Ácidos Nucleicos , Cor de Olho/genética , Antropologia Forense/tendências , Genética Forense/tendências , Cor de Cabelo/genética , Fenótipo , Aparência Física/genética , Pigmentação da Pele/genéticaRESUMO
Single nucleotide polymorphism (SNP) refers to the single base sequence variation in specific location of the human genome. Phenotype informative SNP has gradually become one of the research hot spots in forensic science. In this paper, the forensic research situation and application prospect of phenotype informative SNP in the characteristics of hair, eye and skin color, height, and facial feature are reviewed.
Assuntos
Humanos , Cor de Olho/genética , Genética Forense/tendências , Ciências Forenses , Genoma Humano , Cabelo , Fenótipo , Polimorfismo de Nucleotídeo Único/genéticaRESUMO
A pigmentação de olhos pretos (forma selvagem) e vermelhos (forma mutante) de Triatoma infestans foi estudada por espectrofotometria e comparada à de olhos vermelhos (selvagem) e brancos (mutante) de Drosophila melanogaster. Os perfis do espectro de absorção dos pigmentos de olho preto e vermelho de T. infestans foram semelhantes entre si e ao dos olhos de tipo selvagem de D. melanogaster. A similaridade com a forma selvagem de D. melanogaster indicou que ambos os tipos de olho de T. infestans continham omocromos do tipo xantomatina, o que foi confirmado por cromatografia ascendente em papel. Não foram detectadas pteridinas, melaninas e ominas como pigmentos de olho em T. infestans. A diferença na cor de olho em T. infestans foi considerada uma função da concentração de xantomatina, sendo menor o conteúdo de omocromo nos olhos vermelhos, embora isso provavelmente não afete a acuidade visual do inseto. Esses resultados estão de acordo com dados de outros autores quanto a semelhanças envolvendo outras características entre espécimes de olho preto e vermelho de T. infestans.
Assuntos
Animais , Drosophila melanogaster/genética , Cor de Olho/genética , Pigmentos da Retina/análise , Triatoma/genética , Mutação , Fenotiazinas/análise , Pigmentos da Retina/química , Espectrofotometria , Xantenos/análiseRESUMO
By using multiple-choice technique, mating success between purple eye colour mutant and wild type D. biarmipes was studied in an Elens-Wattiaux mating chamber. Red eyed (wild type) males were more successful in mating than mutant males. However, mutant females were more receptive than wild females. The results suggest that purple eye colour mutation affects mating propensity in D. biarmipes.