Identification Strategy of Biological Half Sibling Relationship / 法医学杂志

OBJECTIVES@#To compare the application value of the likelihood ratio (LR) method and identity by state (IBS) method in the identification involving half sibling relationships, and to provide a reference for the setting of relevant standards for identification of half sibling relationship.@*METHODS@#(1) Based on the same genetic marker combinations, the reliability of computer simulation method was verified by comparing the distributions of cumulated identity by state score (CIBS) and combined full sibling index in actual cases with the distributions in simulated cases. (2) In different numbers of three genetic marker combinations, the simulation of full sibling, half sibling and unrelated individual pairs, each 1 million pairs, was obtained; the CIBS, as well as the corresponding types of cumulative LR parameters, were calculated. (3) The application value of LR method was compared with that of IBS method, by comparing the best system efficiency provided by LR method and IBS method when genetic markers in different amounts and of different types and accuracy were applied to distinguish the above three relational individual pairs. (4) According to the existing simulation data, the minimum number of genetic markers required to distinguish half siblings from the other two relationships using different types of genetic markers was estimated by curve fitting.@*RESULTS@#(1) After the rank sum test, under the premise that the real relationship and the genetic marker combination tested were the same, there was no significant difference between the simulation method and the results obtained in the actual case. (2) In most cases, under the same conditions, the system effectiveness obtained by LR method was greater than that by IBS method. (3) According to the existing data, the number of genetic markers required for full-half siblings and half sibling identification could be obtained by curve fitting when the system effectiveness reached 0.95 or 0.99.@*CONCLUSIONS@#When distinguishing half sibling from full sibling pairs or unrelated pairs, it is recommended to give preference to the LR method, and estimate the required number of markers according to the identification types and the population data, to ensure the identification effect.

Calculation of the Probability Distribution of CIBS Score in Different Relationships and Its Application / 法医学杂志

Objective To derive the probability distribution formula of combined identity by state （CIBS） score among individuals with different relationships based on population data of autosomal multiallelic genetic markers. Methods The probabilities of different identity by state （IBS） scores occurring at a single locus between two individuals with different relationships were derived based on the principle of ITO method. Then the distribution probability formula of CIBS score between two individuals with different relationships when a certain number of genetic markers were used for relationship identification was derived based on the multinomial distribution theory. The formula was compared with the CIBS probability distribution formula based on binomial distribution theory. Results Between individuals with a certain relationship, labelled as RS, the probabilities of IBS=2, 1 and 0 occurring at a certain autosomal genetic marker x （that is, p2（RSx）, p1（RSx） and p0（RSx））, can be calculated based on the allele frequency data of that genetic marker and the probability of two individuals with the corresponding RS relationship sharing 0, 1 or 2 identity by descent （IBD） alleles （that is, φ0, φ1 and φ2）. For a genotyping system with multiple independent genetic markers, the distribution of CIBS score between pairs of individuals with relationships other than parent-child can be deducted using the averages of the 3 probabilities of all genetic markers （that is, p2（RS）, p1（RS） and p0（RS））, based on multinomial distribution theory. Conclusion The calculation of CIBS score distribution formula can be extended to all kinships and has great application value in case interpretation and system effectiveness evaluation. In most situations, the results based on binomial distribution formula are similar to those based on the formula derived in this study, thus, there is little difference between the two methods in actual work.

Research Progress on Human Age Estimation Based on DNA Methylation / 法医学杂志

In forensic science practice, age is an important individual information, and one of the indicators to be considered first to depict features of the suspect. Recently, DNA methylation has become a research hotspot in age estimation because of its hig accuracy and stability. New progress has been made in specificity of DNA methylation sites, age estimation in multiple tissues, DNA methylation age estimation of minors, sensitivity of age estimation, forensic practical applications, etc. At the same time, several studies also established more accurate statistical modeling methods, eliminated differences between different detection platforms, found appropriate number of sites in models and analyzed the influence of environment and diseases. This review summarizes these to provide references.

Research Progress on Forensic Genetics of Facial Morphological Depiction / 法医学杂志

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.

Genetic polymorphisms of nine non-DNA combined index system short tandem repeat loci in Hebei Han population and application in paternity testing / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To investigate the polymorphisms of 9 non-DNA combined index system (CODIS) short tandem repeats (STRs), i.e., D7S3048, D8S1132, D11S2368, D2S1772, D6S1043, D13S325, D12S391, GATA198B05, D18S1364 in Hebei Han population, and evaluate the usage of them in paternity testing.</p><p><b>METHODS</b>One hundred and forty-seven unrelated healthy individuals from the Han population of Hebei province were genotyped using STRtyper10G kit including 9 STR loci on ABI 3130 Genetic Analyzer. Hardy-Weinberg equilibrium and population genetic parameters were calculated. Fourteen cases of motherless paternity testing and 2 cases of standard trios with mutation in 1 locus were detected using STRtyper10G.</p><p><b>RESULTS</b>(1) Ninety-nine alleles and 336 genotypes were observed in the 9 STR loci in the population. The cumulative discrimination power(DP) was higher than 0.999,999,999. The cumulative probability of exclusion (PE) for trios and duos were 0.999,974 and 0.998,759 respectively. Departure from Hardy-Weinberg equilibrium was not observed in any of the 9 loci. (2) The combined paternity index (PI) of the 14 cases of motherless paternity testing ranged from 10³-10⁶ for 15 STR loci in ID, whereas it reached 10⁵-10⁹ for 22 independent STR loci included in ID and STRtyper 10G. Possible mutation in FGA and vWA was observed in 2 cases of trios, and the combined PI was 5945 and 1840 respectively for 15 STR loci in ID. Adding STRtyper 10G to detect these 2 cases, the combined PI reached 2.76 × 10⁷ and 4.88 × 10⁷ respectively.</p><p><b>CONCLUSION</b>The genetic polymorphism of the 9 non-CODIS STR loci included in STRtyper 10G was quite high in Chinese Hebei Han population, indicating the 9 STR loci are valuable as complement markers for ID and PP16 kit in motherless paternity testing, paternity testing with mutation and other kinds of complicated paternity testing.</p>

Polymorphism of D10S1248, D2S441, D1S1677 in Hunan Han population / 法医学杂志

OBJECTIVE@#To establish a multiplex set including D10S1248, D2S441, D1S1677 and to investigate the genetic polymorphism of the three miniSTR in Hunan Han population.@*METHODS@#Three miniSTR loci of 186 unrelated individuals were amplified with different multiplex fluorescence-labeled primers. The amplified products were analyzed by ABI 310 Genetic Analyzer to identify genotype.@*RESULTS@#Each locus was successfully genotyped. Among the 186 individuals investigated, 9, 7 and 7 alleles, as well as 21, 19 and 15 genotypes were detected at D10S1248, D2S441 and D1S1677, respectively. No significant deviation from Hardy-Weinberg equilibrium was observed. The excluding probability of paternity and the discrimination power were 0,465, 0.491 and 0.361, as well as 0.886, 0.899 and 0.818 for D10S1248, D2S441 and D1S1677, respectively.@*CONCLUSION@#The miniSTR multiplex set can benefit forensic analysis of degraded samples. It has shown good polymorphism in Hunan Han population and can be used in personal identification and paternity test.

Construction of standard allelic ladder of miniSTR loci by molecular cloning / 法医学杂志

OBJECTIVE@#To investigate the genetic polymorphism of five miniSTR loci (D9S2157, D9S1122, D10S1435, D12ATA63, D2S1776) in Hebei Han population and to construct standard allelic ladders.@*METHODS@#Polymorphism of the five miniSTR loci in 120 unrelated individuals was analyzed by fluorescence PCR and ABI 310 Genetic Analyzer. Molecular cloning technique was employed to construct standard allelic ladder of the 5 loci.@*RESULTS@#Of the five miniSTR loci, 8, 8, 7, 5 and 8 alleles were found, respectively. The polymorphism information component were 0.790, 0.720, 0.750, 0.630 and 0.850, respectively.@*CONCLUSION@#The five loci have relatively abundant polymorphic information and their standard allelic ladders constructed by molecular cloning technique are useful in forensic science.

Genetic polymorphism of four X chromosome short temden repeats loci in Hebei Han population / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To investigate the polymorphism of loci DXS6800, DXS6797, GATA172D05, DXS986 four loci in Hebei Han population.</p><p><b>METHODS</b>The genome DNA of unrelated individuals,the families and rotten materials were extracted with phenol-chloroform method and Chelex-100 method,respectively. The PCR products were detected by the polyacrylamide gel electrophoresis and DNA sequencing analysis.</p><p><b>RESULTS</b>Among 150 unrelated males and 150 unrelated females from Hebei Han population, 25 alleles were found in the 4 loci. One hundred and thirty-eight haplotypes of the male were detected. The haplotype diversity reached 0.9986.</p><p><b>CONCLUSION</b>The findings provided the polymorphic data of DXS6800, DXS6797, GATA172D05, and DXS986 loci in Hebei Han population. The four loci are relatively abundant in polymorphic information for identification and the obtained data of Hebei Han population can be applied to the X-STR genetic data bank.</p>

Polymorphism of five short tandem repeat loci on chromosome X in Hebei Han population / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To investigate the polymorphism of DXS6801, DXS6809, DXS7423, DXS7424, DXS9902 five loci in Hebei Han population.</p><p><b>METHODS</b>The PCR products were detected by the polyacrylamide gel electrophresis and DNA sequencing analysis.</p><p><b>RESULTS</b>Among 114 irrelative males and 118 irrelative females from Hebei Han population, 31 alleles were found in the 5 loci. One hundred and one haplotypes of the male were detected and the haplotype diversity reached 0.9975.</p><p><b>CONCLUSION</b>The five loci are relatively abundant in polymorphic information for identification and paternity test. And the obtained data of Hebei Han population can be applied to the X-short tandem repeat genetic data bank.</p>

Polymorphic analysis of four Y short tandem repeat loci in Han nationality of Hebei province in China / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To investigate the distribution of the polymorphism of the Y-chromosomal loci DYS438, DYS439, GATA A7.1 and GATA A7.2 among Han population in Hebei province.</p><p><b>METHODS</b>With the use of PCR followed by polyacrylamide gel electrophoresis and silver staining, the allele frequencies of these loci in 164 unrelated men of Han population were investigated.</p><p><b>RESULTS</b>Four, five, five, four alleles were observed at the loci DYS438, DYS439, GATA A7.1 and GATA A7.2 respectively; the frequencies of these alleles ranged from 0.0359 to 0.6587, from 0.0179 to 0.4107, from 0.0122 to 0.4146 and from 0.0476 to 0.5238 respectively; the probability discrimination of these loci were 0.5121, 0.6811, 0.6679 and 0.6327 respectively. Seventy different haplotypes were found at these loci. Thirty-six different haplotypes appeared only once. The power of discrimination of these four loci was 0.9480.</p><p><b>CONCLUSION</b>The results demonstrate that these loci(DYS438, DYS439, GATA A7.1 and GATA A7.2) are good genetic markers with high determination power and can be applied to individual identification, especially in paternity test and the detection of mixed samples.</p>

Sequence polymorphism of mtDNA HV1, HV2 overlapping fragments and coding region 8430-8673nt in Han population of Hebei province / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To investigate the sequence polymorphism of mtDNA HV1,HV2 overlapping fragments and coding region encompassing position 8430-8673 in Hebei Han population.</p><p><b>METHODS</b>Polymerase chain reaction-single strand conformation polymorphism (PCR-SSCP) combined with sequencing method was used to detect the haplotype distribution of mtDNA in 100 Hebei Han individuals.</p><p><b>RESULTS</b>Ninety-one haplotypes were noted in 100 unrelated individuals. The gene diversity is 0.9985 and the random match probability is 0.0115. Compared with the Anderson sequence, 65 sites of different nucleotide sequences were noted, of which 44 sites were previously registered in MITOMAP, 12 sites were not registered and the gene mutations were different from MITOMAP at 9 positions.</p><p><b>CONCLUSION</b>The obtained data suggest that these loci are valuable genetic markers for personal identification and thus could be used as basic data for the forensic application of mtDNA in Hebei province.</p>

Effect of peroxynitrite on the reactivity of rabbit pulmonary arteries in vitro / 生理学报

To investigate the effect of peroxynitrite (ONOO(-)) on the reactivity of rabbit pulmonary artery, the responses of rabbit pulmonary artery rings (PARs) pre-incubated with ONOO(-) to endothelium-dependent and receptor-dependent relaxants ACh and ADP, endothelium-dependent and receptor-independent relaxant calcium ionophore A23187, endothelium-independent relaxant sodium nitroprusside (SNP) and alpha(1)-adrenoceptor agonist phenylephrine (PE) were observed in vitro in an accumulative manner. (1) Relaxations of PARs to ACh, calcium ionophore A23187 and ADP were markedly impaired with shift of accumulative dose-response curve of each agonist to the right. Inhibition of endothelium-dependent and receptor-dependent or independent relaxation by ONOO(-) was dose-dependent. (2) ONOO(-) incubation inhibited SNP-induced relaxation in a dose-dependent manner. (3) Contractile response of PARs to PE varied with the different doses of ONOO(-). In PARs pre-incubated with 0.5 mmol/L ONOO(-), contractile response was significantly enhanced with shift of PE accumulative dose-response curve to the left, whereas in PARs pre-incubated with 1.0 mmol/L or 2.0 mmol/L ONOO(-), it was markedly reduced with right shift of PE accumulative dose-response curve. (4) Vehicle of ONOO(-) had no effect on responses to each agonist.Decomposed ONOO(-) had minimal effect on the response to PE and ADP, in contrast, relaxation of PARs to ACh, A23187 and SNP were enhanced. These results indicate that ONOO(-) may contribute to regulatory disorder of pulmonary artery reactivity.