Calculation of Likelihood Ratios for Incest Cases Using IBD Patterns / 法医学杂志

OBJECTIVES@#To calculate the likelihood ratios of incest cases using identity by descent (IBD) patterns.@*METHODS@#The unique IBD pattern was formed by denoting the alleles from the members in a pedigree with a same digital. The probability of each IBD pattern was obtained by multiplying the prior probability by the frequency of non-IBD alleles. The pedigree likelihoods of incest cases under different hypotheses were obtained by summing all IBD pattern probabilities, and the likelihood ratio(LR) was calculated by comparing the likelihoods of different pedigrees.@*RESULTS@#The IBD patterns and the formulae of calculating LR for father-daughter incest and brother-sister incest were obtained.@*CONCLUSIONS@#The calculations of LR for incest cases were illustrated based on IBD patterns.

Genetic Polymorphisms and Mutations of 30 Y-STR Loci in Chinese Han Population / 法医学杂志

OBJECTIVES@#To investigate the genetic polymorphisms and mutations of 30 Y-STR loci in Chinese Han males and to evaluate its forensic application.@*METHODS@#The DNA extracted from blood samples of 1 005 unrelated males and 1 008 father-son pairs （1 949 individuals in all） in Chinese Han population were typed using developed 30 Y-STR loci identification system. The parameters of population genetics and the mutation rates of each locus were analysed statistically.@*RESULTS@#A total of 983 haplotypes were found in 1 005 unrelated males from Chinese Han population, of which 963 were unique. The overall haplotype diversity （HD） and discrimination capacity （DC） were 0.999 955 and 0.978 109, respectively. Totally 340 alleles were detected on 30 Y-STR loci, the value of gene diversity （GD） ranged from 0.410 3 to 0.952 3. The GD values of 24 out of the 30 loci were over 0.6. There were 30 269 allele transfers in 1 008 father-son pairs, one mutation in 68 father-son pairs, and the mutation of three father-son pairs occurred at two loci. On 26 Y-STR loci, 74 mutations were detected in 71 father-son pairs. The average mutation rates were 2.4×10⁻³ （95% CI： 1.9×10⁻³-3.1×10⁻³）. Seventy-three mutation events were one-step mutation （98.6%）, 1 mutation event was two-step mutation （1.4%）.@*CONCLUSIONS@#The multiplex PCR system with 30 Y-STR loci has high genetic polymorphism and low mutation rates in Chinese Han males. Therefore, the system shows important values in Y-STR database construction and population genetic research.

Calculation of the avuncular index / 法医学杂志

OBJECTIVE@#To introduce the method of avuncular index (AI) calculation.@*METHODS@#Identity by decent coefficient, coancestry coefficient and AI law were employed in identification of uncle-niece relationship, when autosomal STR loci were detected to determine controversial uncle-niece relationship.@*RESULTS@#The results of AI calculation were coincidental using identity by descent coefficien, coancestry coefficient and AI law.@*CONCLUSION@#The results are coincidental using three methods in the different situations. AI index is higher with participation of children's mother.

Observation on therapeutic effect of fire-needle therapy on lumbar intervertebral disc herniation / 中国针灸

<p><b>OBJECTIVE</b>To observe the therapeutic effect of fire-needle therapy on lumbar intervertebral disc herniation.</p><p><b>METHODS</b>Sixty cases were randomly divided into a fire-needle group and an electroacupuncture group, 30 cases in each group. The fire-needle group was treated with fire-needle therapy and routine acupuncture, i.e., the fire-needle was given to the points on the lesion segments, and Jiaji (EX-B 2) and Ashi points above and bellow the segments, and routine acupuncture was given at Shenshu (BL 23), Zhibian (BL 54), Huantiao (GB 30), etc.; the electroacupuncture group was treated with electroacupuncture at the points as those in the fire-needle group. The scores of McGill Pain Rating Scale, Visual Analogous Scale (VAS) and present pain intensity (PPI) were compared before and after treatment for 2 weeks in the two groups.</p><p><b>RESULTS</b>After treatment, all of the scores of McGill Pain Rating Scale, VAS and PPI were significantly decreased (all P < 0.01); the scores of emotion in the McGill Pain Rating Scale, VAS and PPI in the fire-needle group were significantly decreased as compared with those of the electroacupuncture group (P < 0.05, P < 0.01).</p><p><b>CONCLUSION</b>Both fire-needle therapy and electroacupuncture can effectively relieve pain in the patients with lumbar intervertebral disc herniation, but the former is better than the latter.</p>

Observation on therapeutic effect of acupoint application on dysmenorrhea of excess syndrome and effect on prostaglandins / 中国针灸

<p><b>OBJECTIVE</b>To observe therapeutic effect of acupoint application on dysmenorrhea of excess syndrome and its effect on prostaglandins.</p><p><b>METHODS</b>The patients with primary dysmenorrhea of excess syndrome were randomly divided into an application group and a medication group. The application group of 31 cases were treated with application of Chinese medicine composed of Zhinanxing (Rhizoma Arisaematis), Sanleng (Rhizoma Sparganii), Ezhu (Rhizoma Zedoariae), etc. at Zhongji (CV 3), Guanyuan (CV 4), Qihai (CV 6); and the medication group of 30 cases were treated with oral administration of Tianqi Tongjing Capsules. The scores for the pain degrees and the duration of dysmenorrhea were observed and prostaglandin F2alpha (PGF2alpha) and prostaglandin E2 (PGE2) contents in peripheral blood were determined before and after treatment.</p><p><b>RESULTS</b>The total effective rate of 93.5% in the application group was significantly better than 73.3% in the medication group (P < 0.05); after treatment, the scores of the symptoms were significantly decreased in the two groups (both P < 0.01), with more obvious improvement in the application group than the medication group (P < 0.01). The PGE2 content was significantly increased, and the PGF2alpha content and PGF2alpha/PGE2 were significantly decreased in the application group (all P < 0.01).</p><p><b>CONCLUSION</b>Acupoint application has a better therapeutic effect on dysmenorrhea of excess syndrome and has benign regulative action on synthesis of prostaglandins in the patients with primary dysmenorrhea.</p>

Development and application of X-chromosomal STR multiplex amplification system / 法医学杂志

OBJECTIVE@#To explore the application of X-chromosomal STR(X-STR) for forensic identification and paternity testing.@*METHODS@#Six X-STR loci DXS6801, DXS9902, DXS6809, DXS6803, DXS6804 and DXS6799 were amplified in a single PCR reaction. PCR products were analyzed using capillary electrophoresis and 3100 Genetic Analyzer and GeneMapper ID v3.1 Analysis Software.@*RESULTS@#The alleles of all six X-STR loci were successfully obtained with unambiguous genotyping, high sensitivity and reproducibility.@*CONCLUSION@#The multiplex PCR of six X-STR loci is useful in forensic identification, particularly for sisters cases.

A new method for calculating paternity index / 法医学杂志

OBJECTIVE@#To introduce a new method for calculating the paternity index (PI).@*METHODS@#Assuming that each allele from parents has undergone a transition before it segregates and transmits to child. The transition probability is 1 when parent allele is the same as child's, the transition probability is 0 when parent allele is different from the child's. Every allele has a transmission probability with 0.5. Base on these theories, it is easy to gain the probability that child inherits an allele from the alleged father or mother. Thus, the X value (numerator) and Y value (denominator) of PI formula can be calculated, as unknown man provide an allele for child with the allele frequency.@*RESULTS@#A general formula that calculated the PI for trios, duos and missing child cases was deduced.@*CONCLUSION@#The new method is practical in all kinds of forensic paternity case.

A new method for calculating the paternity index in presence of mutation / 法医学杂志

OBJECTIVE@#To introduce a method of calculating the paternity index (PI) for autosomal codominant markers when the mutation is encountered.@*METHODS@#Assuming mutation arises with a mutational probability before an allele segregates and transmits to child with 1/2 chance, the probability of a random man giving an allele to child is the allele frequency in population. Considering only one mutation event in one case, the mutant allele can be determined by comparing the allele between parents and child. Furthermore, the probability of child's genotype can be calculated to identify the father between a tested man and a random male. Subsequently, the PI can be calculated.@*RESULTS@#Formula of PI was deduced for trios, duos and missing child cases, including maternal mutation.@*CONCLUSION@#The method is easy to understand and useful in paternity testing.

Application of ITO method and discriminant functions in full sibling and half sibling identification / 法医学杂志

OBJECTIVE@#To investigate the application of ITO method and discriminant functions method in full sibling and half sibling identification.@*METHODS@#Five hundred pairs of full siblings (FS), 50 pairs of half siblings (HS) and 500 pairs of unrelated individuals (UR) were genotyped by PowerPlex 16 system. Full sibling index (FSI), half sibling index (HSI) and the FSI:HSI ratio were calculated with ITO method. Allelic matching of each pair of the three groups was compared. The locus numbers of no-allele sharing (x0), half-allele sharing (x1) and two-alleles sharing (x2) were calculated, respectively. The discriminant functions about full-siblings, half-siblings and unrelated individuals (UR) were established by SPSS 13.0 statistical software.@*RESULTS@#(1) Regard FSI > or = 19 or FSI < 1 as the standard of distinguishing full sibling from unrelated individual, the alternate correct percentage was 96.4%. Regard HSI > or = 19 or HSI < 1 as the standard of distinguishing half sibling from unrelated individual, the alternate correct percentage was 85.3%. Regard FSI:HSI > or = 1 or FSI:HSI < 1 as the standard of distinguishing full sibling from half sibling, the alternate correct percentage was 87.5%. (2) Four groups of discriminant functions were established. The alternate correct percentage of these discriminant functions were 84.4%-97.7%, with the highest one in full sibship-unrelated individual group.@*CONCLUSION@#Both ITO method and discriminant functions method are efficient in identification of full sibling or half sibling.

Haplotypes of DXS10011 and DXS8377 in Guangdong Han individuals / 法医学杂志

OBJECTIVE@#To investigate genetic polymorphism of two X chromosome specific STR: DXS10011 and DXS8377 in male samples from Guangdong Han population.@*METHODS@#The DNA samples were amplified by PCR and analyzed by polyacrylamide gel electrophoresis followed by silver staining.@*RESULTS@#Among 113 samples, 20 alleles were found for DXS1011 and 12 alleles for DXS8377. Also, 72 DXS10011-DXS8377 haplotypes were shown. The most common haplotypes only occurred three times. When only female children were tested in motherless case, the exclusion probability of paternity was 0.9588 for DXS10011-DXS8377 haplotypes. Investigations in 83 family trios with female children and 29 pedigrees with two children suggested a co-dominant X-linked inheritance; mutations were not found.@*CONCLUSION@#Our data indicate that DXS10011 and DXS8377 are highly informative X chromosome markers for complicated kinship analysis.

Diversity of paternity index with different allele frequencies / 法医学杂志

OBJECTIVE@#To evaluate the diversity of combined paternity index (CPI) of multiple STR loci when different population allele frequencies was used to calculate the paternity index.@*METHODS@#CPI of 13 CODIS (combined DNA index system) loci for 108 trio cases and 108 duo cases selected randomly were calculated by using five Chinese Han population allele frequencies, respectively.@*RESULTS@#The CPI range for trio cases and duo cases were 2077.63-50897711626.46 and 25.12-2998685141, respectively. When different population allele frequencies were applied to the same case, the ratio of maximum CPI and minimum CPI, which was more than 100, for trio cases and duo cases were 20 cases (19.52%) and 13 cases (12.04%), respectively.@*CONCLUSION@#The variation of CPI value of the CODIS loci was obvious with different allele frequencies. To prevent the error causing by uncertain allele frequencies, a conservative CPI value should be calculated in paternity testing.

Detecting haplotypes of four Y-STR by multiplex amplification / 法医学杂志

OBJECTIVE@#To establish a multiplexing Y-STR system and study haplotype frequencies of 4 Y-specific loci in China Han population.@*METHODS@#DYS439, DYS390, GATA-A7.2 and DYS393 loci were amplified simultaneously and were analyzed by polyacrylamide gel electrophoresis and silver staining.@*RESULTS@#When 558 unrelated male individuals from the Han population in China were tested by the multiplex system, DYS439, DYS390, GATA-A7.2 and DYS393 show 7,7,7,6 alleles, respectively. 180 different haplotypes were detected. The power of discrimination of this system was 0.9853.@*CONCLUSION@#The multiplex amplified system of these 4 Y-specific loci and their database are useful for human origin exploration and forensic practice.

Polymorphism and multiplex amplification of 3 X-chromosome specific short tandem repeat loci / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To devise a multiplex PCR system of three X-chromosome specific short tandem repeat (X-STR) loci and study the genetic polymorphism.</p><p><b>METHODS</b>DXS6799, DXS6804 and DXS6854 were amplified simultaneously using a multiplex system and were typed by polyacrylamide gel electrophoresis and silver staining.</p><p><b>RESULTS</b>A total of 262 male and 255 female individuals from Guangdong Han population were tested; each locus showed 7 alleles. 73 haplotypes were detected in the male individuals. The haplotype diversity reached 0.9674.</p><p><b>CONCLUSION</b>The 3 X-STR multiplex system is relatively abundant in polymorphic information for forensic identification and paternity testing.</p>

Seven Y-specific loci haplotypes and their usefulness in forensic casework / 法医学杂志

OBJECTIVE@#To study genetic polymorphism of 7 Y-specific short tandem repeats (STR) and assess their usefulness in forensic casework.@*METHODS@#7 Y-STR have been amplified in two multiplex reactions, (Multiplex I:DYS391, GATA-A4, GATA-A10 and GATA-H4. Multiplex II:DYS439,DYS437 and DYS434). PCR products were separated by polyacrylamide gels electrophoresis followed by silver stain.@*RESULTS@#When 372 unrelated individuals from the Han population in Guangdong were detected by those system, DYS391, GATA-A4, GATA-A10, GATA-H4,DYS439,DYS437 and DYS434 showed 5,7,6,5,6,4,4 alleles, respectively. A total of 254 different haplotypes were identified, of which 201 (79.13%) were found in single individuals. The overall haplotypes diversity reached 0.9960.@*CONCLUSION@#The 7 Y-STR loci are highly genetic polymorphism and they will be very powerful for establishing Y-STR database, understanding human origin, paternity testing and personal identification.

Genotype reliability of short tandem repeats typing from minute DNA / 法医学杂志

OBJECTIVE@#To understand the forensic practice of DNA profiling from minimal amount of DNA.@*METHODS@#Serial dilutions of DNA were amplified with the PowerPlex 16 System Kit, then the genotyping of short tandem repeat(STR) was performed by ABI 377 DNA automated Sequencer.@*RESULTS@#When the mount of DNA template was less than 250 pg, allelic drop-out apparently occurred at several loci. Other disturbed peaks, such as artefact bands and imbalanced heterozygote, also presented.@*CONCLUSION@#The anomalous results may result in incorrect genotyping. Careful and comprehensive considerations are needed to interpret the STR profile of minute DNA.

Polymorphism of PentaD and PentaE STR locus in five Chinese Han population / 法医学杂志

OBJECTIVE@#To obtain the genetic polymorphism data of Guangxi, Hunan, Henan, Sichuan, Taiwang Chinese Han population and compare the polymorphism of PentaD and PentaE STR locus.@*METHODS@#The two loci was analyzed by using the PowerPlex 16 System.@*RESULTS@#10 alleles of PentaD and 19 alleles of PentaE were found in the five Han population. PentaD and PentaE have the expected heterozygosity values of 0.7746-0.8047 and 0.9005-0.9219, the polymorphism information content values of 0.7710-0.8025 and 0.8969-0.9176, the discrimination power values of 0.9223-0.9341 and 0.9471-0.9782, the power of exclusion values of 0.5435-0.6325 and 0.6785-0.8465, respectively.@*CONCLUSION@#The result showed that these two loci were highly informative and suitable for forensic application.

Interpretation of DNA profiles for mixed stains / 法医学杂志

This article review the advance in interpretation of mixed forensic stains using DNA profiling, including autosome STR profiling, sex profiling determined by PCR, Y-specific STR profiling, mitochondrial DNA profiling and single nucleotide polymorphism profiling. The statistics methods for mixed stain has also been reviewed.

The unusual typing of short tandem repeats / 法医学杂志

Short tandem repeats (STRs) have been widely used in forensic sciences such as stain analysis and paternity testing. Although most of STR typing could give the reliable and clear results, some unusual typing have been observed in forensic practice. The anomalous typing could result from a lot of causes, including DNA genetic variation, poor quality or quantity of DNA template, different typing system or method, nonspecific reaction in PCR or anomalous electrophoresis migration. The unusual results may disturb the right interpretation of STR typing.

Cantonese population data of the tetranucleotide repeat locus D7S809 and its application in paternity test / 法医学杂志

The tetranucleotide repeat locus D7S809 was investigated in Cantonese population by polymerase chain reaction (PCR) amplification, subsequent polyacryramide gel electrophoresis and silver staining. 14 alleles and 50 genotypes were detected in 190 sample individuals. All alleles differed in size by 4 bp repeat. No interalleles were found. The heterozygosity, power of discrimination and chance of non-paternal exclusion were 0.8613, 0.9645 and 0.7184 respectively. No significant deviations from Hardy-Weinberg equilibrium were found. The D7S809 was a highly polymorphic, stable and accurate type locus and had been successfully applied to 100 paternity test cases.