ABSTRACT
There are two kinds ofamelogeningene mutation, including mutation in primer-binding re-gion ofamelogeningene and micro deletion of Y chromosome encompassingamelogeningene, and the latter is more common. The mechanisms of mutation in primer-binding region ofamelogeningene is nu-cleotide point mutation and the mechanism of micro deletion of Y chromosome encompassingamelo-geningene maybe non-allelic homologous recombination or non-homologous end-joining. Among the population worldwide, there is a notably higher frequency ofamelogeningene mutations in Indian popu-lation, Sri Lanka population and Nepalese population which reside within the Indian subcontinent. Thoughamelogeningene mutations have little impact on fertility and phenotype, they might cause incor-rect result in gender identification. Using composite-amplification kit which including autosomal STR lo-cus,amelogeningene locus and multiple Y-STR locus, could avoid wrong gender identification caused byamelogeningene mutation.
ABSTRACT
Source identification of human biological materials in crime scene plays an important role in reconstructing the crime process. Searching specific genetic markers to identify the source of different human biological materials is the emphasis and difficulty of the research work of legal medical experts in recent years. This paper reviews the genetic markers which are used for identifying the source of human biological materials and studied widely, such as DNA methylation, mRNA, microRNA, microflora and protein, etc. By comparing the principles and methods of source identification of human biological materials using different kinds of genetic markers, different source of human biological material owns suitable marker types and can be identified by detecting single genetic marker or combined multiple genetic markers. Though there is no uniform standard and method for identifying the source of human biological materials in forensic laboratories at present, the research and development of a series of mature and reliable methods for distinguishing different human biological materials play the role as forensic evi-dence which will be the future development direction.
ABSTRACT
Objective To explore the feasibility of detecting of Y-STR of fetal DNA in m aternal plasm a using Ion Torrent PGMTM System . Methods A total of 16 fetal DNA sam ples from m aternal plasm as (8 cases from 38 w eeks gestational age and 8 ones from 12 w eeks) w ere prepared and a m ultiplex assay w ith 7 STR loci (DYS390,DYS391,DYS393,DYS438,DYS437,DYS456,DYS635) w as designed for m ul-tiplex-PC R am plification. U sing Ion Torrent PGMTM System , the results of Y-STR sequences and capillary electrophoresis w ere obtained and com pared. Results Y-STR specific alleles w ere detected in the m ater-nal plasm a of all the pregnant w om en having m ale babies of second and third trim ester, w hich w ere higher than that detected by capillary electrophoresis. C onsistent Y-STR genotypes w ere observed betw een fetal DNA from m aternal plasm a and genom ic DNA from the new born babies. Conclusion B ased on Ion Torrent PGMTM System , the prenatal Y-STR detection m ethod m ay provide a high-sensitive and high-throughput choice for prenatal STR detection in forensic testing.