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Molecular Identification of Human Phenotopic Characteristic ZHU Bo-feng

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Please wait a minute... For Selected: Download Citations EndNote Ris BibTeX Toggle Thumbnails Select   法医学杂志    2019, 35 (5): 507-511.   DOI: 10.12116/j.issn.1004-5619.2019.05.001 Abstract （216）      PDF（pc） （1027KB）（1219）       Knowledge map    Save   Reference | Related Articles | Metrics | Comments（0） Select DNA Molecular Identification of Human Phenotypic Characteristics——New Progress Over the Past Five Years MENG Hao-tian, LAN Qiong, ZHU Bo-feng 法医学杂志    2019, 35 (5): 512-518，524.   DOI: 10.12116/j.issn.1004-5619.2019.05.002 Abstract （584）      PDF（pc） （989KB）（1708）       Knowledge map    Save 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. Related Articles | Metrics | Comments（0） Select From the “Out of Africa Theory” Study to the Application of “DNA Biogeographic Ancestry Inference” in Criminal Investigation JIANG Li, LIU Jing, LI Cai-xia 法医学杂志    2019, 35 (5): 519-524.   DOI: 10.12116/j.issn.1004-5619.2019.05.003 Abstract （372）      PDF（pc） （1001KB）（1248）       Knowledge map    Save Genetic markers, such as single nucleotide polymorphism （SNP）, insertion/deletion （InDel）, were discovered and widely used with the development of whole genome sequencing and bioinformatics technology. The origin and genetic structure of the modern population had been gradually revealed from the perspective of genetics. The study on biogeographic ancestry inference in the field of forensic genetics emerged and developed rapidly, providing clues and scientific basis for the determination of investigation direction and for the narrow of the scope of investigation in the process of case investigation. This paper briefly reviews the research progress, inference methods and development trends of DNA ancestry inference technology. Related Articles | Metrics | Comments（0） Select Research Progress on Forensic Molecular Phenotyping in the Age of Precision Medicine#br# ZHAO Wen-ting, JIANG Li, LI Cai-xia 法医学杂志    2019, 35 (5): 525-530.   DOI: 10.12116/j.issn.1004-5619.2019.05.004 Abstract （586）      PDF（pc） （962KB）（1488）       Knowledge map    Save With the development of new technologies, such as whole genome sequencing and big data, many countries have constructed large cohorts as strategic resources for precision medicine study. Related studies have significantly promoted research progress in many fields, such as medicine and biology, creating the genetic testing industry. In the forensic field, characterization technologies for features, such as biogeographic ancestry, genetic genealogy and physical appearance have emerged and developed rapidly. Compared with traditional forensic DNA technology, the new technology can search for characteristics and provide clues, quickly becoming an important means to solve difficult cases such as cold cases and accumulated cases. This paper briefly reviews the current status of the construction of large cohorts at home and abroad, and the research progress of forensic molecular phenotyping in the context of precision medicine in the context of precision medicine. Related Articles | Metrics | Comments（0） Select Research Progress on Forensic Genetics of Facial Morphological Depiction DU Qing-qing, LU Chao-long, CONG Bin,et al. 法医学杂志    2019, 35 (5): 531-536.   DOI: 10.12116/j.issn.1004-5619.2019.05.005 Abstract （542）      PDF（pc） （956KB）（1590）       Knowledge map    Save Forensic DNA phenotyping （FDP） analysis uses DNA from biological samples left in crime scenes to predict individual phenotypic traits, such as geographical origin of ethnic group, height, weight, skin color, hair color and shape, iris color, male baldness, facial morphology, age, etc., thereby providing clues for case investigations. Among these traits, features of facial morphology are relatively more complicated. This paper makes an overall analysis of the measurement and collection of facial morphology, research on facial morphology related genes, forensic application and establishment of facial morphology depiction model, ethical issues, etc., then summarizes the latest research progress on features of facial morphology. Related Articles | Metrics | Comments（0） Select Research Progress on Age Estimation Based on DNA Methylation#br# MENG Hang, MA Kai-jun, DONG Li-min,et al. 法医学杂志    2019, 35 (5): 537-544.   DOI: 10.12116/j.issn.1004-5619.2019.05.006 Abstract （716）      PDF（pc） （994KB）（1944）       Knowledge map    Save Age estimation is of great significance in the fields of criminal investigation and forensic identification. It can provide the age information of individuals to judicial departments to facilitate the development of judicial work. In recent years, age estimation methods expanded from the morphological level to the molecular biology level. With the rapid development of epigenetics represented by DNA methylation, and the advancement of DNA methylation detection technology together with the detection platform, many age estimation methods based on DNA methylation biomarkers, or using several biological fluids, such as blood, blood stains, saliva, semen stains, etc. are developed. Currently, researches related to age estimation based on DNA methylation are relatively widely carried out. This paper summarizes the researches on age estimation based on DNA methylation, in order to provide references for related studies and forensic applications. Related Articles | Metrics | Comments（0） Select Detection of Ancestry Information of Urumqi Mongolians Based on the AIM-InDels Loci Multiplex System SHEN Chun-mei, XIE Tong, MEI Shu-yan,et al. 法医学杂志    2019, 35 (5): 545-552.   DOI: 10.12116/j.issn.1004-5619.2019.05.007 Abstract （189）      PDF（pc） （2466KB）（933）       Knowledge map    Save Objective To explore the genetic background and structure of Urumqi Mongolians, the previously developed 39-AIM-InDels panel for ancestry inference was utilized in the present study. Methods The blood samples of 145 unrelated healthy Urumqi Mongolian individuals were collected and genotyped. The compositions of ancestry information of Urumqi Mongolians were studied with 17 different populations from three continents （East Asia, Europe and Africa） as reference populations. Then, multiple population genetics and bioinformatics analysis methods were applied, the Fst and DA values between matched populations were compared and analyzed, PCA analysis was performed and a phylogenetic tree was constructed. The proportions of ancestry information components of Urumqi Mongolians were analyzed with Structure software, etc. Results The ancestry information components of Urumqi Mongolian group in different intercontinental populations accounted for 89%, 7%, and 3% of East Asian, European, and African populations, respectively. Compared with other intercontinental populations, Urumqi Mongolian group and East Asian populations have lower Fst and DA values, and they were in the same cluster in PCA analysis as well. In a phylogenetic tree, the Urumqi Mongolian group was in the same branch as East Asian populations. Conclusion Urumqi Mongolian group had relatively close genetic relationships with East Asian populations, and the proportion of its East Asian ancestry was about 89%. Related Articles | Metrics | Comments（0） Select Pigmentation Phenotype Prediction of Chinese Populations from Different Language Families LIANG Qiu-shuang, LIU Ming, TAO Xian-ming, et al. 法医学杂志    2019, 35 (5): 553-559.   DOI: 10.12116/j.issn.1004-5619.2019.05.008 Abstract （419）      PDF（pc） （1902KB）（1043）       Knowledge map    Save 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. Related Articles | Metrics | Comments（0） Select Ancestry Inference Using the ForenSeqTM DNA Signature Prep Kit WANG Na-na, LI Ran, WU Ri-ga,et al . 法医学杂志    2019, 35 (5): 560-566.   DOI: 10.12116/j.issn.1004-5619.2019.05.009 Abstract （288）      PDF（pc） （2956KB）（1048）       Knowledge map    Save Objective To evaluate the effect of 56 ancestry informative single nucleotide polymorphism （aiSNP） genetic markers in the ForenSeqTM DNA Signature Prep Kit on ancestry inference. Methods A total of 85 samples from five populations including Hebei Han population, Inner Mongolia autonomous region Mongolian population, Tibet autonomous region Tibetan population, Xinjiang Uygur autonomous region Uygur population and Nigerian population were collected. The library was constructed with the ForenSeqTM DNA Signature Prep Kit and sequencing was performed based on the MiSeq FGx Forensic Genomics System. Using universal analysis software （UAS） of ForenSeqTM, principal component analysis （PCA）, Structure and likelihood ratio method was used on the genotyping data of 56 aiSNP markers, respectively, and the genetic relationships between populations and inference of the origin of ancestors were analyzed. Results Among the five populations tested, the four ethnic populations in China （Hebei Han population, Inner Mongolia autonomous region Mongolian population, Tibet autonomous region Tibetan population and Xinjiang Uygur autonomous region Uygur population） could be significantly distinguished from Nigerian population. Xinjiang Uygur autonomous region Uygur individuals were shown as having mixed origins of ancestors and could be distinguished from the other three Chinese populations. However, the other three populations in China （Hebei Han population, Inner Mongolia autonomous region Mongolian population and Tibet autonomous region Tibetan population） could not be effectively distinguished by the system. Conclusion The 56 aiSNP markers in the ForenSeqTM DNA Signature Prep Kit can make accurate ancestry inference from the intercontinental level, but it is not yet able to distinguish between Chinese subpopulations. Related Articles | Metrics | Comments（0）