ABSTRACT
OBJECTIVE@#To establish and evaluate the method of matched locus numbers in full sibling identification.@*METHODS@#Two hundred and eighty full sibling (FS) pairs and 2003 unrelated individual (UI) pairs were genotyped with Identifiler system. The number of locus matched with 0 identical allele (A0), matched with 1 allele (A1) or matched with 2 alleles (A2) were counted and full sibling index (FSI) were calculated based on ITO method. Fisher discriminant functions were established based on the numbers of matched STR locus or FSI. Power of different Fisher discriminant functions was statistically analyzed.@*RESULTS@#The distribution of A1 and A2 in FS group and that of A0 and A1 in UI group were in accord with normal distribution. Contrarily, A0 in FS group and A2 in UI group fitted to skew distribution, respectively. Difference of A1 distribution was not statistically significant in the two groups (P>0.01). The established Fisher discriminant functions based on A0 and A2 for each group were Z(FS)=0.99817A0+4.24442A2-12.77970 and Z(UI)=2.01456A0+1.54658A2-7.28076, respectively, the average error probability of which was as low as 0.0490. The power of discrimination for full sibling showed no statistically significant difference between ITO method and the established Fisher discriminant functions.@*CONCLUSION@#The number of matched STR locus in Identifiler system is a valuable method in full sibling identification. The discriminating power of the established Fisher discriminant functions based on the matched STR locus number is similar with that of classic ITO method in full sibling identification.
Subject(s)
Humans , Algorithms , Alleles , Discriminant Analysis , Forensic Genetics/methods , Genetics, Population , Likelihood Functions , Polymerase Chain Reaction/methods , ROC Curve , Siblings , Tandem Repeat Sequences/geneticsABSTRACT
OBJECTIVE@#To study genetic alterations in 13 CODIS STR loci in various tumor tissue samples from human digestive system.@*METHODS@#Malignant tumor tissues and blood samples taken from 55 different unrelated individuals were collected. DNA samples were extracted using Chelex100 extraction kit, amplified using Profiler and Cofiler PCR amplification kit and analyzed using API 310 analyzer.@*RESULTS@#Aberrant cell divisions were detected in all of the 55 tumor tissue samples, with STR alternations detected in two samples including allelic alteration, partial and complete loss or unbalance of heterozygosity. Moreover, the alternations might occur simultaneously at more than one loci.@*CONCLUSION@#Caution must be taken in STR analysis of tumor tissue samples since the exclusion loci in forensic identification or paternity testing may be resulted from mutations in the tumor tissue.
Subject(s)
Humans , Alleles , DNA, Neoplasm/analysis , Digestive System Neoplasms/genetics , Gastrointestinal Neoplasms/genetics , Genetic Variation , Genotype , Loss of Heterozygosity , Pancreatic Neoplasms/genetics , Polymerase Chain Reaction , Tandem Repeat Sequences/geneticsABSTRACT
OBJECTIVE@#The study was carried out on the evaluation of number and value of STR loci applied in paternity identification.@*METHODS@#A total of 13 STR loci, divided into four groups, was observed in 102 cases of paternity exclusion and 100 cases of paternity inclusion. PCR amplified products of 13 STR loci were injected into a capillary on the ABI PRISM 310 Genetic Analyzer. GeneScan software analyzed the collected data, which can then be imported into Genotyper software for genotyping of alleles.@*RESULTS@#At least 3 STR loci incompatibilities between alleged father and child were found in all paternity exclusion cases of two observed groups which Cumulative Probability of Exclusion (CPE) was more than 99.99%, and in all paternity inclusion cases of those same observed groups, their Relative Chance of Paternity(RCP) could be over 99.99%.@*CONCLUSION@#The exclusion of paternity should be based on at least three STR loci incompatibilities in the identification practice. As a criterion for evaluation of the number and value of STR loci applied in paternity test, CPE should reach 99.99%.
Subject(s)
Adult , Child , Female , Humans , Male , DNA Fingerprinting , Forensic Medicine , Gene Frequency , Paternity , Polymorphism, Genetic , Tandem Repeat Sequences/geneticsABSTRACT
OBJECTIVE@#The study was carried out on application of CODIS loci (FGA, vWA, CSF1PO, TH01, TPOX, D3S1358, D5S818, D7S820, D8S1179, D13S317, D16S539, D18S51 and D21S11) in 100 cases of excluding paternity.@*METHODS@#The PCR amplified products of Profiler Plus and Cofiler amplification kit were injected into a capillary on the ABI PRISM 310 Genetic Analyzer. GeneScan software analyzed the collected data, which can then be imported into Genotyper software for genotyping of alleles.@*RESULTS@#In the group of Mother-Child-Alleged Father, more than 3 STR loci incompatibilities between alleged father and child were found in all observed cases, the mean incompatibility was 6.63; In the group of Alleged Father-Child, 94.0% of all cases observed was found more than 3 STR loci incompatibilities, the mean incompatibility was 5.01.@*CONCLUSION@#The results showed that CODIS loci had good application to excluding paternity, and the choice of hyperpolymorphic markers in investigation, which were valued by DP, H and PE, had direct relation with the augmentation of incompatibilities in excluding paternity.