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.

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.

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

The validation study for two STR loci on X-chromosome, DXS7132 and GATA31D10, was done including allelic distribution and frequency of each allele to use these results for individual identification and paternity testing. For 496 unrelated Koreans, above two STR loci were amplified simultaneously using duplex PCR amplification method. The amplified products were analyzed by polyacrylamide gel electrophoresis followed by silver staining. In male DXS7132 locus revealed 7 different alleles ranging from 276bp to 300bp. The largest allele was consisted of 14 repetition of [TCTA] unit and took 0.3417. The allele 15 followed next as 0.3165 and allele 13 as 0.1726. In female general distribution was same except one allele, allele 18 was found additionally. The heterozygosity was 0.7706 and 23 different genotypes were found. Polymorphism information content(PIC) was 0.727. Two cases of mutation were noted in DXS7132 locusIn both male and female 7 different alleles were noted in GATA31D10 locus and the alleles ranged from 195bp to 231bp. The allele 15(199bp) took the majority of all as 0.825. The other alleles showed rather relatively low frequency. The heterozygosity was 0.2385 and 11 different genotypes were found. PIC was 0.2521, and no mutation was noted in GATA31D10 locus. Considering these two loci together, 22 different halpotype were noted.
Alleles ; Electrophoresis, Polyacrylamide Gel ; Female ; Genotype ; Haplotypes ; Humans ; Male ; Paternity ; Polymerase Chain Reaction ; Silver Staining

This study intends to evaluate usefulness of ABO gene in forensic identification. The genotype and allele frequency of ABO gene was investigated and the power of identification information of ABO gene was calculated. 100 unrelated Korean individuals were selected. DNA was extracted from sample and PCR and sequencing were performed to analyze sequence of exon 6 and exon 7 in ABO gene, the following results were obtained: 1. The polymorphic nucleotide positions of ABO gene are 216, 297 in exon 6 (2 positions) and 467, 526, 579, 646, 657, 681, 703, 771, 796, 803, 829, 930 in exon 7 (12 positions) in Korean. 2. Amomg Korean population, 18 ABO genotypes and 7 alleles were observed. O01 is most frequent (27.6%) and then A102 (22.0%), B101 (22.0%), O02 (21.0%). 3. In A type allele, the frequencies of A101 and A102 are 21.4%, 78.6% respectively. And in B type, B101 is 97.7%, the most part of them. In O type, O01 is 56.0%, O02 is 42.0% and O04 is 2.0%. 4. The observed heterozygosity and the expected heterozygosity is 0.670, 0.784 each. The polymorphism information content (PIC) is 0.744. The power of discrimination (PD) and the mean exclusion chance (MEC) are calculated to be 0.924 and 0.576. Based on the results of this study, the determination of ABO genotype by sequencing may be useful in forensic identification including finding an individual in relation to criminal case, paternity test, and confirming possible relationships between family members.
Alleles ; Criminals ; Discrimination (Psychology) ; DNA ; Exons ; Gene Frequency ; Genotype ; Humans ; Paternity ; Polymerase Chain Reaction ; Sequence Analysis*

In order to determine paternity by genetic testing, the Paternity Index (PI) and probability of paternity are calculated using likelihood ratio method. However, when it is necessary, additional testing can be performed to validate the genetic relationship. This research demonstrates autosomal short tandem repeat (STR) results of Jeju Island population in order to determine genetic relationship. Two notable cases showed that despite the acceptable PI value obtained from STR testing, average of 12 mismatches were found in total of 169 autosomal single nucleotide polymorphism typing. Such cases imply that cautious statistical approach is necessary when determining genetic relationship, especially within an isolated population group. Moreover, this would suggest that a further research and investigation are needed in order to understand the population structure of Korea.
Genetic Testing ; Humans ; Korea ; Microsatellite Repeats ; Oligonucleotide Array Sequence Analysis ; Paternity* ; Polymorphism, Single Nucleotide ; Population Groups

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