8 results about "Chinese population" patented technology

The invention discloses a reagent, a detection system and a method for HPA genotyping detection of Chinese population. According to the invention, a multiplex PCR technology based on a fluorescent probe melting curve is adopted, specific primers of different HPA systems and fluorescent labeled probes are arranged and combined, and finally, only three reaction tubes are used for simultaneously carrying out genotyping on 14 HPA antigen systems of Chinese population at a time. In addition, the detection system disclosed by the invention is simple, convenient, rapid, accurate and efficient, and has a relatively high practical value.

The invention relates to the technical field of forensic genomics, in particular to a primer group and a kit for detecting genetic markers of 365 Y chromosomes and application of the primer group and the kit. According to the invention, an amplification primer group for specific 57 Y-STRs and 308 Y-SNPs of Chinese population is optimally designed, and a joint detection method with high sensitivity and high resolution is constructed. Y-STR haplotype analysis and Y-SNP haplogroup accurate typing can be synchronously realized, and the problems of high family checking false positive rate, insufficient geographic ancestor inference resolution and the like caused by single site type detection in the traditional technology are solved. The method is suitable for diversified biological samples such as blood, seminal stains and saliva, and provides a novel technical scheme of high-throughput, low-cost and multi-dimensional paternal genetic information analysis for forensic practice. Comprising construction of a Y-STR and Y-SNP composite amplification system based on next-generation sequencing and application of the Y-STR and Y-SNP composite amplification system in forensic medicine individual recognition, family investigation and biogeography ancestor inference.

This invention discloses a reagent, detection system, and method for HPA genotyping in the Chinese population. The invention employs a multiplex PCR technique based on fluorescent probe melting curves, arranging and combining specific primers and fluorescently labeled probes for different HPA systems. This ultimately enables simultaneous genotyping of 14 HPA antigen systems in the Chinese population using only three reaction tubes in a single test. Furthermore, the detection system of this invention is not only simple and rapid but also accurate and efficient, possessing high practical value.

This invention belongs to the field of genetics and provides a technique and data analysis method for simultaneously detecting 193 Y-STRs in the Chinese population based on an NGS platform. This invention discloses 193 Y-STR loci for human Y-chromosome STR genotyping; the selected 193 Y-STRs are used for library construction using a two-step PCR method. This invention has advantages such as rapid amplification, consistent efficiency, high sensitivity, and good data visualization; due to the high depth of high-throughput sequencing, it is more conducive to the analysis of mixed and degraded materials.

The invention discloses a Chinese population POPs lifetime cumulative risk assessment method and system. The method comprises the following steps: S1, big data collection and preprocessing; s2, constructing an age and gender related dynamic relation model; s3, optimizing the POPs human body accumulation model; s4, carrying out POPs removal half-life period fitting on the Chinese population; s5, carrying out life-long cumulative trend simulation and risk assessment on the POPs; the system comprises a data acquisition module, a dynamic relation modeling module, an accumulation model construction module, a model calibration verification module and a risk assessment module. The method and system can solve the problems that an existing model is complex, poor in applicability and incapable of adapting to Chinese population characteristics and full-life-cycle evaluation requirements, achieve accurate simulation and prediction of the lifelong and intergenerational POPs accumulation level of Chinese population, provide a scientific tool for population health risk evaluation and environment management policy making, and improve the economic benefits of people. Good popularization and application prospects are realized.

The application discloses a Chinese crowd PhenoAge prediction model and a construction method thereof. The method comprises the following steps: acquiring a physical examination data set (B1) of at least 50,000 Chinese adults, wherein the physical examination data comprises gender, chronological age and nine blood indexes; pre-processing the physical examination data (C1); calculating the PhenoAge label value of each sample (D1); dividing the samples into a male subgroup (F1) and a female subgroup (G1) according to gender, as shown in elements E1, F1 and G1 in FIG. 1 and FIG. 2; training a male model (H1) and a female model (I1) respectively by using a machine learning algorithm (S3), to obtain a prediction model (T3); and evaluating the model performance (Y3) by using an independent verification set (U3). The application also provides a PA-CRP variant model (G5), and a construction process thereof is shown in FIG. 5, which is suitable for a physical examination scene (H5) in which C-reactive protein is unavailable. The application firstly constructs a PhenoAge prediction model (K1) based on large-scale Chinese crowd physical examination data, solves the crowd specificity deviation problem of the original PhenoAge model in the application of Chinese crowds, and provides a precise tool for individual aging assessment, chronic disease risk prediction and lifestyle intervention effect quantification.

This invention discloses a primer set, kit, and application for prenatal screening of RhD, belonging to the field of gene detection technology. Based on genetic data of the Chinese population, this invention proposes four specific primer pairs. Through specific amplification, it can effectively distinguish four genes: RhD complete deletion gene, RhD-CE(2-9)-D hybrid gene, RhD1227A, and RhD wild-type gene. Compared with existing technologies, by incorporating RhD exon9 amplification, it can detect the RhD1227A gene, which accounts for approximately 16.3% to 32.6% of RhD-negative blood types in the Chinese population, reducing the probability of false positives due to paternal RhD1227A gene carriage. This provides a more accurate, low-cost, rapid, and convenient option for prenatal screening of RhD in the Chinese population.

The invention discloses an application of an HLA (human leukocyte antigen) gene SNP (single nucleotide polymorphism) site in predicting the genetic susceptibility risk of immune thrombocytopenic purpura of Chinese population, and the HLA gene SNP site is rs2187668 and has Cgt; according to the present invention, the genotype of the site is detected, and the genotypes of the site have different risks of immune thrombocytopenic purpura, such that the effective prediction can be performed by detecting the genotype of the site so as to achieve the purpose of predicting the Chinese iTTP genetic susceptible population through the molecular diagnosis method detection, and the significant clinical diagnosis application value is provided.