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

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*

Pruritic Urticarial Papules and Plaques of Pregnancy (PUPPP) is a common dermatosis of pregnancy which usually occurs in the third trimester and generally in that of primigravida. Clinical feature is characterized by tiny erythematous papules which soon coalesce to form large, erythematous plaques. It generally occurs in abdomen, buttocks, thighs and upper inner arms. Since 1979 when Lawley et al. first described and reported PUPPP, there has been a lot of reports on PUPPP but the etiology is still not known. Many etiologic factors were reported but paternity as an etiologic factor was rarely reported. We had a very rare case which showed paternity could be one of the possible etiologic factors and we would like to share our case though this report.
Abdomen ; Arm ; Buttocks ; Female ; Humans ; Paternity* ; Pregnancy Trimester, Third ; Pregnancy* ; Skin Diseases ; Thigh

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

We have been testing familial relationships based on short tandem repeats (STRs) in families who requested it either voluntarily or by order of the court. Here, we present a summary of our 5-year experience of autosomal STR-based paternity tests. A total of 1,431 individuals from 588 cases were tested, including 878 pairs of either of the parent, and a child. Among these 588 cases, genetic information about the other parent was available only for 135 cases. Five hundred eighteen pairs were concluded to be parent-child relations, for which the median paternity index (PI) was 72,826, and the median decimal logarithm was 4.860. Autosomal mutation was observed in nine pairs (1.74%), and the pairs harbored only one mismatched locus among the 15 standard loci (D8S1179, D21S11, D7S820, CSF1PO, D3S1358, TH01, D13S317, D16S539, D2S1338, D19S433, vWA, TPOX, D18S51, D5S818, and FGA). The number of mismatched loci did not increase even after additional loci were included in the study. The observed mutation rates were D13S317 (0.193%), D18S51 (0.193%), D19S433 (0.193%), FGA (0.193%), vWA (0.386%), Penta D (0.387%), and Penta E (0.193%). There were 14 pairs with two mismatched loci, which we excluded through additional tests on either autosomal or X chromosomal STRs, and mitochondrial sequencing. Although PI is useful for determining parent-child relation, it provides indirect information; it is an interpretation of the test results that is based on probability. Additional genotyping on sex chromosome and mitochondrial DNA, or participation of other family members might be beneficial for a reliable conclusion.
Child ; DNA, Mitochondrial ; Humans ; Microsatellite Repeats ; Mutation Rate ; Parent-Child Relations ; Parents ; Paternity* ; Sex Chromosomes