Calculation of Likelihood Ratios for Incest Cases Using IBD Patterns.

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.

Two loci concurrent mutations in non-exclusion parentage cases using 19 STR profiles.

Two loci concurrent mutations in non-exclusion paternity case were reported based on 19 STR loci available from Goldeneye™ DNA ID System 20A (Peoplespot, Beijing, China). When 9508 family trios with Paternity index (PI) threshold of >10,000 was analyzed, 14 families show mutations at two loci. The paternity was confirmed by using an additional 19 STR markers.

Population structure of Han nationality in Central-Southern China.

Knowledge of population structure is very important for forensic genetics. However, the population substructure in Central-Southern China Han nationality has still not been fully described. In this study, we investigated the genetic diversity of 15 forensic autosomal STR loci from 6879 individuals in 12 Han populations subdivided by administrative provinces in Central-Southern China.

Potential of 13 linked autosomal short tandem repeat loci in pairwise kinship analysis.

In this study, a panel of 13 STR loci locate on chromosome 3, 4, and 17 (D3S2402, D3S2452, D3S1766, D3S4554, D3S2388, D3S3051, D3S3053, D4S2404, D4S2364, AC001348A, AC001348B, D17S975, and D17S1294) were assessed for pairwise kinship analysis. Map distances between these STR loci ranged from 0.07 cM to 97.

Population data and mutation rates of 19 STR loci in seven provinces from China based on Goldeneye™ DNA ID System 20A.

Short tandem repeat (STR) analysis is a primary tool in forensic casework. Population data and mutation rates of STRs are very important for paternity testing and forensic genetics. However, the population data and mutation rates of STRs in Han nationality based on large samples have still not been fully described in China.

Genetic polymorphism of 22 autosomal STR markers in a Han population of Southern China.

Population genetic data and forensic statistics of 22 autosomal short tandem repeat (STR) loci (D1S1656, D2S1338, D3S3045, D4S2366, D5S2500, D6S477, D7S3048, D8S1132, D9S925, D10S1435, D11S2368, D12S391, D13S325, D14S608, D15S659, D16S539, D17S1290, D18S535, D19S253, D20S470, D21S1270 and GATA198B05) were determined for a sample of 515 unrelated individuals from Han population in Southern China. The expected heterozygosity and the discrimination power varied from 0.7358 to 0.

TMEM16A overexpression contributes to tumor invasion and poor prognosis of human gastric cancer through TGF-β signaling.

TMEM16A is a newly identified calcium activated chloride channel, and has been reported to be overexpressed by various solid malignant cancers to promote proliferation and invasion, yet little is known about its role in gastric cancer(GC). Therefore, we investigated the role of TMEM16A in GC and its clinical significance by a retrospective analysis of 367 GC patients, and in vitro study was performed for validation and underlying molecular mechanism.TMEM16A was significantly upregulated and amplified in GC tissues, and its overexpression was positively correlated with disease stage, negatively with patient survival and identified as an independent prognostic factor for patient outcome.

Recombination analysis of autosomal short tandem repeats in Chinese Han families.

Recombination fractions between forensic STRs can be extrapolated from the International HapMap Project, but the concordance between recombination fractions predicated from genetic maps and derived from observation of STR transmissions in families is still ambiguous for autosomal STRs because of limited family studies. Therefore, the main goal of this study is to compare recombination fractions estimated by pedigree analysis with those derived from HapMap phase SNP data. Genotypes of nine autosomal STR pairs (TPOX-D2S1772, D5S818-CSF1PO, D7S3048-D7S820, D8S1132-D8S1179, TH01-D11S2368, vWA-D12S391, D13S325-D13S317, D18S51-D18S1364, and D21S11-PentaD) from 207 two-generation families with two to five children (the number of families with five, four, three, and two children was 2, 3, 20, and 182, respectively) were used to analyze the recombination.

X chromosomal recombination--a family study analyzing 26 X-STR Loci in Chinese Han three-generation pedigrees.

The aim of this study is to investigate genetic linkage and recombination fractions of 26 X chromosomal (X-STR) loci with two multiplex PCR systems (MX15-STR and MX12-STR). MX15-STR (including DXS7133, DXS6801, DXS981, DXS6809, DXS7424, DXS6789, DXS9898, DXS7132, GATA165B12, DXS101, DXS10075, DXS6800, GATA31E08, DXS10074, and DXS10079) and MX12-STR (including DXS6854, DXS9902, DXS6800, GATA172D05, DXS7423, HPRTB, DXS6807, DXS6803, DXS6804, DXS6799, DXS8378, and DXS8377) were successful analyzed on 206 two-generation families with two or more children and 33 three-generation families with 72 grandsons. Segregation analysis and calculation of recombination fractions between pairs of markers were performed.

Allele and Haplotype Diversity of 26 X-STR Loci in Four Nationality Populations from China.

Background: Haplotype analysis of closely associated markers has proven to be a powerful tool in kinship analysis, especially when short tandem repeats (STR) fail to resolve uncertainty in relationship analysis. STR located on the X chromosome show stronger linkage disequilibrium compared with autosomal STR. So, it is necessary to estimate the haplotype frequencies directly from population studies as linkage disequilibrium is population-specific.

Development of multiplex PCR system with 15 X-STR loci and genetic analysis in three nationality populations from China.

The aim of this study is to develop a new multiplex PCR system that simultaneously amplifies the 15 X-chromosome short tandem repeats (X-STRs) loci in the same PCR reaction, and to obtain the 15 X-STR loci database in three nationality populations from China. This multiplex system includes DXS7133, DXS6801, DXS981, DXS6809, DXS7424, DXS6789, DXS9898, DXS7132, GATA165B12, DXS101, DXS10075, DXS6800, GATA31E08, DXS10074, and DXS10079, which were successfully analyzed on 1251 DNA samples (670 males and 581 females) from Guangdong Han population, Xinjiang Uigur and Kazakh. The allele frequencies and mutation rates of the 15 loci were investigated, and the allele frequency distribution among different populations was compared.

[Calculation of the avuncular index].

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.

Neural correlates of feigned memory impairment are distinguishable from answering randomly and answering incorrectly: an fMRI and behavioral study.

Previous functional magnetic resonance imaging (fMRI) studies have identified activation in the prefrontal-parietal-sub-cortical circuit during feigned memory impairment when comparing with truthful telling. Here, we used fMRI to determine whether neural activity can differentiate between answering correctly, answering randomly, answering incorrectly, and feigned memory impairment. In this study, 12 healthy subjects underwent block-design fMRI while they performed digit task of forced-choice format under four conditions: answering correctly, answering randomly, answering incorrectly, and simulated feigned memory impairment.

Development and population study of the 12 X-STR loci multiplexes PCR systems.

To develop a multiplex polymerase chain reaction (PCR) system with 12 X-chromosomal short-tandem repeat (X-STR) loci and to investigate their polymorphism and linkage and/or independence, the 12 loci (DXS6807, DXS8378, DXS9902, DXS6800, DXS6803, DXS6799, DXS6804, GATA172D05, DXS6854, HPRTB, DXS8377, and DXS7423) were simultaneously analyzed in 1,005 unrelated individuals (574 males and 431 females) from Guangdong Han individuals and Kazakh populations living in China. The allele frequencies and mutation rates were investigated. Allele frequency distribution among different populations was compared.

Genetic analysis of the 10 ChrX STRs loci in Chinese Han nationality from Guangdong province.

This study is to explore the polymorphic nature of X-Chromosome short tandem repeats (ChrX STRs) loci, and to determine its application in kinship tests for forensic cases. A new fluorescent multiplex PCR that simultaneously amplifies the 10 ChX STRs loci in the same PCR reaction had been set up. DXS7132, DXS981, DXS6801, DXS6809, DXS6789, DXS7424, DXS101, DXS7133, GATA165B12 and GATA31E08 were analyzed in a sample of 511 (399 males and 112 females) unrelated individuals from Guangdong Han nationality in China.

Development of the nine X-STR loci typing system and genetic analysis in three nationality populations from China.

This study is to develop a new multiplex polymerase chain reaction (PCR) system that simultaneously amplifies the nine X-chromosome short tandem repeats loci in the same PCR reaction, and to explore their polymorphism and mutation rate among three nationality populations from China. These loci included DXS6854, DXS9902, DXS6809, GATA172D05, HPRTB, DXS7423, DXS6807, DXS8378, and DXS8377. The samples of 890 (484 males and 406 females) unrelated individuals from Guangdong Han population, Xinjiang Uigur, and Inner-Mongolia Mongol were successfully analyzed using this multiplex system.

[Development and application of X-chromosomal STR multiplex amplification system].

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.

Genetic data of nine non-CODIS STRs in Chinese Han population from Guangdong Province, Southern China.

Nine non-combined DNA index system tetranucleotide short tandem repeat (STR) loci D2S1772, D6S1043, D7S3048, D8S1132, D11S2368, D12S391, D13S325, D18S1364, and GATA198B05 were amplified in a multiplex polymerase chain reaction system. The distribution of alleles of the nine STRs was reported from a Chinese Han population in Guangdong Province, Southern China. The combined power of exclusion in trios and duos for the nine loci was 0.

[A new method for calculating paternity index].

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.

[A new method for calculating the paternity index in presence of mutation].

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.

[Observation on therapeutic effect of acupoint application on dysmenorrhea of excess syndrome and effect on prostaglandins].

Objective: To observe therapeutic effect of acupoint application on dysmenorrhea of excess syndrome and its effect on prostaglandins.

Methods: 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.

[Observation on therapeutic effect of fire-needle therapy on lumbar intervertebral disc herniation].

Objective: To observe the therapeutic effect of fire-needle therapy on lumbar intervertebral disc herniation.

Methods: 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.

[Application of ITO method and discriminant functions in full sibling and half sibling identification].

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.