No abstract available.
Paternity*

OBJECTIVETo analyze the rare alleles of D13S325 locus which fell in the size range of D12S391 locus with the STRtyper-10G kit.

METHODSGenotyping results of cases with suspected rare alleles of D13S325 were verified with Sinofiler(TM) kit and a singleplex amplification system. The rare alleles were separated and sequenced.

RESULTSFive families were detected with rare alleles of the D13S325 locus, which were misread as allele 20 of D12S391 locus. The alleles were named as 5.1 based on DNA sequences and have a frequency of 0.156 × 10(-2).

CONCLUSIONAs the rare allele 5.1 of D13S325 locus with the STRtyper-10G kit is prone to be mistyped, attention should be paid in the paternity testing, personal identification and DNA database search.

Alleles ; Humans ; Paternity ; Tandem Repeat Sequences

OBJECTIVETo formulate recommendations in calculation of paternity index in paternity testing under considering mutations.

METHODSDifferent formulas under considering mutations were developed according to Brenner method.

RESULTSDifferent formulas under considering mutations were obtained. Both true exclusion and false exclusion of paternity were easily distinguished using these formulas when the genetic pattern was inconsistent with paternity.

CONCLUSIONThe scientific evidence for paternity testing can be obtained using these formulas under considering mutations when both the combined probability of exclusion and the paternity index meet the threshold values. However, when either the combined probability of exclusion or the paternity index can not meet the threshold values, more genetic markers should be added.

Female ; Humans ; Male ; Microsatellite Repeats ; genetics ; Mutation ; Paternity

In parentage testing DNA profiles are used to link the alleged father with paternity by matching their patterns. The probative value of a match is often calculated by multiplying together the estimated frequencies with which each particular VNTR or STR pattern occurs in a reference population. When this calculating method applies to the motherless case of paternity disputes, a calculation must usually be based on types determined for the child and the alleged father. In such case, the first consideration is to exclude a man from paternity of a child when the man did not have the child's paternal allele at some loci, or if the paternal allele cannot be determined, when the man had neither of the child s alleles. The second is to evaluate the DNA evidence when a man is not excluded by the paternal allele. This work is to provide theories of paternity analysis with three approach methods for the motherless case, and to evaluate their efficiency compared to the trio case when the man tested is not excluded. Consequently, the motherless case offers lower probability exclusion and questionable cumulative paternity index than those of the trio case as being typed with 14 STR loci(CSF1PO, TH01, TPDX, vWA, D5S818, D13S317, D7S820, D16S539, FGA, D21S11, FES/FPS, F13A1, D18S80, D17S5). Since the motherless case in paternity disputes is less efficient for paternity exclusion of the child, the use of genetic maker systems with the higher value of mean exclusion chance(MEC) and exact levels of the relative probability of paternity must be of importance considered in the analysis of such deficiency cases.
Alleles ; Child ; Dissent and Disputes ; DNA ; Fathers ; Humans ; Paternity*

OBJECTIVES: To derive the paternity index (PI) calculation formula of the alleged father (AF) when the AF is a relative (parent/child, siblings, grandparent/grandchild, uncle/nephew, first cousins) of the child's biological mother. METHODS: For the case when the AF is related to the child's biological mother, the existence of the relationship in the numerator and denominator hypothesis of PI was considered. The genotype frequency of the AF was calculated by using the frequency formula in which the mother's genotype was considered, while the random male in the denominator was substituted as another relative of the mother's same rank. The PI calculation formula was derived to eliminate the effect of the relationship between AF and the child's biological mother. RESULTS: When the AF and the biological mother have first, second and tertiary kinship, a more conservative PI was obtained from the PI calculation formula derived in this study compared with the PI calculation method which did not consider kinship. CONCLUSIONS The calculation method provided in this study can eliminate the effect of the relation of the AF and mother on the PI in incest cases, to obtain more accurate and conservative identification conclusions.
Female ; Humans ; Male ; Child ; Paternity ; Mothers ; Genotype ; Fathers

OBJECTIVES: To derive general formulas for calculating commonly used kinship index (KI). METHODS: By introducing the Kronecker symbol, the formulas used to calculate the same KI under different genotype combinations were summarized into a unified expression. RESULTS: The general formulas were successfully derived for KI in various case situations, including the paternity index, full sibling index, half sibling index, avuncular index, grandpaternity index, first-cousin index, and second-cousin index between two individuals without or with the mother being involved; grandpaternity index between grandparents and a grandchild without or with the mother being involved; half sibling index between two children with two mothers being involved; full sibling index among three children; and half sibling index among three children with no, one, or two mothers being involved. CONCLUSIONS The general formulas given in this study simplify the calculation of KIs and facilitate fast and accurate calculation through programming.
Female ; Child ; Humans ; Paternity ; Siblings ; Genotype ; Mothers ; Models, Genetic

OBJECTIVETo formulate recommendations in the evaluation of results of genetic analyses in paternity testing under considering mutations.

METHODSA total of 15 short tandem repeat(STR) loci were employed for this study, which were included CSF1PO, FGA, TH01, TPOX, VWA, D3S1358, D5S818, D7S820, D8S1179, D13S317, D16S539, D18S51, D21S11, PentaD and PentaE. Both 100 cases of true trio and 100 cases of false trio were investigated.

RESULTSThe numbers of mismatch alleles in different STR loci were observed in 100 cases of false trio. The different distributions of paternity index were obtained, including the changes of paternity index in each case of true trio under simulated mutations.

CONCLUSIONIn order to avoid the effect of mutations, the exclusion of paternity was never considered on the basis of a single locus. The threshold values of the combined probability of exclusion and the paternity index were important for both exclusion and inclusion of paternity. The scientific evidence for paternity testing can be obtained when both the combined probability of exclusion and the paternity index meet the threshold values. However, when either the combined probability of exclusion or the paternity index can not meet the threshold values, more genetic markers should be added.

Female ; Forensic Genetics ; methods ; Humans ; Male ; Microsatellite Repeats ; genetics ; Mutation ; Nuclear Family ; Paternity ; Reproducibility of Results

OBJECTIVETo explore the cause for allelic drop-out at short tandem repeat (STR) loci upon paternity testing with a PowerPlex® 16 kit.

METHODSA total of 10 642 DNA confirmed paternity testing cases (18 314 parent/child allelic transfers) were analyzed with the PowerPlex® 16 kit. Samples suspected for having allelic drop-out were verified with an Identifiler™ kit and/or locus-specific singleplex amplification systems. PCR products of null alleles were separated and directly sequenced.

RESULTSEight cases of allelic drop-out were found. The overall rate of null allele in the PowerPlex® 16 system was 0.437 × 10(-3). DNA sequencing has confirmed single base variations within the binding region of published primers, in which 4 cases involved the D18S51 locus (2 cases with G>A transitions at 79 bp upstream of the repeats, 1 case with G>T transversion at 162 bp downstream of the repeats and 1 case with G>C transversion at 74 bp upstream of the repeats), 2 cases involved the D21S11 locus (1 case with C>A transversion at 17 bp upstream of the repeats and 1 case with A>G transition at 12 bp upstream of the repeats). One case involved the FGA locus (1 case with G>A transition at 142 bp downstream of the repeats) and 1 case involved TPOX locus (1 case with G>A transition at 198 bp downstream of the repeats).

CONCLUSIONBase variation in the primer binding region may cause failed PCR and result in null allele reports. Alternative primer sets should be used to verify the suspected allelic drop-out. Attention should be paid to this during paternity testing and data exchange for personal identification.

Alleles ; Genetic Variation ; Humans ; Male ; Microsatellite Repeats ; Paternity ; Sequence Analysis, DNA

OBJECTIVETo explore the feasibility of applying autosomal single nucleotide polymorphisms (SNPs) on parentage testing.

METHODSAll SNP genotyping results of HapMap (r27) were downloaded from the website. With self-made computer programs, SNPs were extracted when their minor allele frequency (MAF) were ≥ 0.30 among all of the 11 HapMap populations. Ninety-six SNPs were chosen and integrated into the Illumina Goldengate bead arrays on the condition that no linkage disequilibrium was found between them. Three father-child-mother trios (9 samples in total) were tested with the arrays. Cumulative paternity index (CPI) was then calculated and compared with genotyping results using 15 short tandem repeats (STRs)(Identifiler(TM)).

RESULTSFamily 1 was found to have nine SNPs or seven STRs that did not conform to the Mendelian laws, Family 2 had 13 such SNPs or seven STRs, and Family 3 only had one such SNP but no STR. For Family 3, when all of the 96 SNPs were used in combine, the CPI was 1207, which had contrasted with the CPI by the 15 STRs, i.e., 355 869.

CONCLUSIONWhen applied to paternity testing, the paternity exclusion (PE) value for a SNP is usually less than 1/3 of that of a STR. The proportion of SNPs not comforming to the Mendelian laws for the tested SNPs may not be as high as that of inconsistent STRs over all tested STRs. Because of the low mutation rate of a SNP, the CPI will be greatly reduced even if one SNP did not conform to the Mendelian laws. Therefore, highly accurate testing methods are required to reduce artificial errors when applying SNPs for paternity testing.

Fathers ; Female ; Genetic Testing ; methods ; Genotype ; HapMap Project ; Humans ; Male ; Mothers ; Paternity ; Polymorphism, Single Nucleotide ; genetics

The four tetrameric STRs loci(HUMvWA31, HUMTHO1, HUMF13A1, HUMFES/FPS) were studied to confirm the allele frequency distribution and to see whether these results can be used for identity and paternity testing in a population o Koreans using multiplex PCR and laser-fluorescence detection method. In the Korean population (n=227), 8 alleles with their relative frequency range of 0.002-0.249 are detected in the HUMvWA31 locus, 6 alleles with those of 0.007-0.500 in 6 alleles with those of 0.004-0.434 in the HUMFES/FPS locus. The highest observed heterozygosity is found at the locus HUMvWA31(0.8077), with those of the lociively. All loci meet Hardy-Weinberg expectations ; there are good agreements between observed and expected heterozygosity, number of observed genotypes. Pairwise comparisons between loci show allelic independence for all the 4 loci. The power of discrimination (PD) determined for the locus HUMvWA31 is 0.933, that for the HUMTHO1 is 0.836, 0.798 for HUMF13A1, and 0.844 for the HUMFES/FPS ; the combined power of discrimination for the quadruplex is 0.9997. Thus, these allelic frequency distribution can be used to construct the database of the multiplex PCR-based DNA profile in the Korean population. The calculated parameter, "combined power of discrimination(PD)" show the informativeness of these loci for the determination of identity and relatedness of individuals.
Alleles ; Discrimination (Psychology) ; DNA ; Gene Frequency ; Genotype ; Microsatellite Repeats* ; Multiplex Polymerase Chain Reaction* ; Paternity