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PubMed1992

Exclusion probabilities of red cell antigen systems for Chinese.

Little data are available in the literature for Chinese people, regarding genotype frequencies of red cell antigen systems. Furthermore, no recommendations for proper selection of red cell antigen systems for paternity testing have been established for a Chinese population. Consequently, calculating a paternity index is impossible. Blood typing of 336-1919 samples of Taiwanese Chinese was undertaken to determine various red blood cell antigens. Gene frequencies and probabilities of exclusion (PE) for the red cell antigen systems were then analyzed. The distributions of the red cell antigens were quite homogeneous. The incidence of D, s, k, Fya and Lub antigens was high, 99.6%, 99.7%, 100%, 99.8% and 99.4%, respectively. On the contrary, that for the K antigen was very low. The PE for the ABO, Rh, MNSs, Kell, Duffy, Kidd, P, and Lutheran systems was 0.1910, 0.1961, 0.2237, 0.0003, 0.0444, 0.1870, 0.0806, and 0, respectively. The cumulative PE (CPE) using ABO, Rh, MNSs, Kell, Duffy, Kidd, P and Lutheran systems was 0.6394, while CPE for ABO, Rh, MNSs, Duffy, Kidd, and P systems was 0.6394. Thus, it appears that the Kell and Lutheran systems are not suitable for paternity testing because of their low probability of exclusions. Duffy system may also be excluded for its low PE. The CPE for ABO, Rh, MNSs, Kidd and P systems was 0.6226.

Asian People↗
PubMed2004

[Polymorphism of STR loci D12S391/D18S865 in Wenzhou Han population].

OBJECTIVE: To investigate the polymorphism and forensic efficiency values of STR loci D12S391/D18S865 METHODS: Population studies on D12S391 and D18S865 were carried out in a sample of 454 unrelated Wenzhou Han individuals using PCR followed by PAGE and silver stain detection. RESULTS: 11/7 alleles and 50/21 genotypes of D12S391/D18S865 were respectively observed among the 454 unrelated individuals. The genotype frequency matched the Hardy-Weinberg equilibrium, The heterozygotes (H) in D12S391/D18S865 were 0.7974/0.7379, Power of Exclusion were 0.9566/0.9077, polymorphism information content (PIC) were 0.8260/0.7279 respectively. CONCLUSION: D12S391 and D18S865 were high polymorphic loci and the frequencies were in accordance with Hardy-Weinberg equilibrium (P>0.5), so the two loci can be used in forensic medicine and in other genetic research areas.

Alleles↗
PubMed2004

[Analysis of the glutathione S-transferase P1 gene Ile105Val polymorphism in the patients with sporadic motor neuron disease from Russia].

Ile105Val polymorphism in exon 5 of glutathione S-transferase (GSTP1) gene was examined in a group of patients with motor neuron disease (MND) and control sample. No statistically significant differences in the allele and genotype frequency distributions between the samples examined were demonstrated. We conclude that Ile105Val polymorphism is not associated with the risk of the disease development in the patients from Russia with sporadic form of MND.

Alleles↗
PubMed2004

[A genetic study of 15 STR loci in Chinese E Wen-ke population].

OBJECTIVE: To investigate the genetic polymorphisms of 15 STRs loci in Chinese E Wen-ke population. METHODS: DNA samples from 99 unrelated individuals in Chinese E Wen-ke population were screened by Power Plex 16 System and ABI3100 Genetic Analyzer. RESULTS: The genotype frequencies of these 15 STR loci meet the Hardy-Weinberg expectation. The Matching probability of 15 STRs loci were between 0.0205-0.1733, discriminating power (DP) at 0.8267-0.9795, heterozygosity (Ho) at 0.6061-0.9091, power of exclusion (PE) at 0.4038-0.7690, polymorphism information content (PIC) at 0.5985-0.8734. The total DP of 15 STRs loci is 0.9999999999998. CONCLUSION: Our results showed that the 15 STRs loci of Power Plex 16 System are valuable STR loci genetic marker system having high DP and are useful in forensic case work in Chinese E Wen-ke population.

Alleles↗
PubMed2004

[A genetic study of 15 STR loci in Chinese East Mongolian population].

OBJECTIVE: To investigate the genetic polymorphisms of 15 STRs loci in Chinese East Mongolian population. METHODS: DNA samples from 105 unrelated individuals in Chinese East Mongolian population were screened by Power Plex 16 System and ABI3100 Genetic Analyzer. RESULTS: The genotype frequencies of these 15 STR loci meet the Hardy-Weinberg expectation. The Matching probability of 15 STRs loci were between 0.0084-0.2169, discriminating power (DP) at 0.7831-0.9916, heterozygosity (H) at 0.5619-0.9231, power of exclusion (PE) at 0.4490-0.8444, polymorphism information content (PIC) at 0.5438-0.9178. The total DP of 15 STRs loci is 0.9999999999998. CONCLUSION: Our results showed that the 15 STRs loci of Power Plex 16 System are valuable STR loci genetic marker system having high DP and are useful in forensic case work in Chinese East Mongolian population.

Alleles↗
PubMed2004

New polymorphism of FASN gene in chicken.

Sequencing, Polymerase Chain Reaction (PCR) and Restriction Fragment Length Polymorphism (RFLP) were carried out to detect polymorphism in the last intron of the FASN gene of the Campero broiler line. The analysis of the sequences presents a G to A substitution located at base 459 of the PCR product (GenBank accession number J02839, located at base Nr. 1222), resulting in a site recognized by restriction enzymes Hae III and Ava II. Also, the sequence presents a G to A substitution (located at base 603 of the PCR product and Nr. 1366 of the J02839 GenBank accession) resulting in a site recognized by restriction enzyme Pst I. Alleles and genotype frequencies were calculated for endonucleases Hae III, Ava II and Pst I for 44 broilers.

Animals↗
PubMed2005

[Analysis of two single nucleotide polymorphisms in von Hippel-Lindau gene and detection of loss of heterozygosity in Chinese sporadic renal cell carcinoma].

OBJECTIVE: To exam two single nucleotide polymorphism(SNP) in VHL gene and intragenic loss of heterozygosity (LOH) of VHL gene in 79 Chinese sporadic renal cell carcinomas(RCCs), and to analyze the relationships between VHL LOH and clinicopathological parameters. METHODS: The authors extracted tumor and normal tissue DNA and detected two genotypes of intragenic SNP sites, rs779805 in the 5'terminal and rs 1642742 in the 3'terminal of VHL gene by polymerase chain reaction-restriction frament length polymorphism, then analyzed VHL LOH by comparing tumor tissue versus normal tissue in heterozygosities. Subsequently the relationships between VHL LOH and clinicopathological parameters of RCCs were analyzed. RESULTS: The computed heritage parameters of two SNPs, included genotype frequency, allele frequency, heterozygosity, and polymorphism information content. Twenty-nine heterozygosities were detected in 79 RCCs. LOH was found in 41.4%(12/29) of RCCs. No significant relationships between VHL LOH and age, sex, tumor stage, pathological grade were found. CONCLUSION: LOH of VHL gene is an important genetic event in Chinese sporadic renal carcinoma, and the LOH frequency is 41.4%. VHL LOH has no influence on stage and grade of RCC.

Adult↗
PubMed2005

Genetic polymorphisms of four STR loci on chromosome X and their forensic applications in a Chinese Han population.

OBJECTIVE: To add DXS7133, GATA198A10, DXS9896 and DXS6797 to the panel of forensically validated X chromosome markers, and apply the multiplex amplification system to a population study and forensic analysis on the Hans of Chengdu. METHODS: The PCR products were detected by the polyacrylamide gel electrophoresis and silver staining method. Hardy-Weinberg equilibrium of females was tested and every forensically interested value was calculated. RESULTS: Sequencing revealed that their common sequence motifs were tetranucleotide repeats. Population genetic data were obtained by analyzing 120 unrelated females and 100 males from Chengdu Han ethnic group. In this population, DXS7133, GATA198A10, DXS9896 and DXS6797 exhibited 6, 6, 11, 8 distinguishable alleles respectively. Chi-square test demonstrated that genotype frequencies in females did not depart from Hardy-Weinberg equilibrium. Power of discrimination for female samples for the four loci were 0.7962, 0.8021, 0.9675, and 0.9444. The parentage testing in 32 cases revealed a typical X-linked inheritance and no mutations. CONCLUSION: DXS7133, GATA198A10, DXS9896 and DXS6797, which are highly polymorphic in Chengdu Han population, are appropriate for individual identification and paternity testing involving a female child.

Asian People↗
PubMed2005

[Polymorphism of DXYS267 locus and application of its Y-specific single nucleotide substitutions].

OBJECTIVE: To investigate the polymorphism of DXYS267 locus in China Han population and find the application and characters of its Y-specific single nucleotide substitutions. METHODS: The locus was analyzed by PCR and PAGE in silver-staining. The Y-specific STR was amplified with newly designed primers according to the Y-specific single nucleotide substitutions. RESULTS: Six alleles were detected in Han population in Wuhan. Exact tests demonstrated that genotype frequencies did not deviate from Hardy-Weinberg equilibrium. Heterozygosity of DXYS267 was 0.6706, discrimination power (DP) was 0.8433, and the probability of paternity exclusion (PE) was 0.5957. The Y-specific STR of DXYS267 was successfully amplified with the new primer. The 4 alleles for Y-STR were detected with haplotype diversity (HD) 0.6372. CONCLUSION: The DXYS267 locus is appropriate for individual identification and paternity testing. The new primer is useful for individual and paternity testing involving brothers and mixed stains.

Base Sequence↗
PubMed2006

MMP14 gene polymorphisms in chronic obstructive pulmonary disease.

Proteinase/antiproteinase imbalance is a widely accepted theory for the pathogenesis of COPD. Among various proteinases, matrix metalloproteinases (MMPs) digest extracellular matrix of the lung and play significant roles in the development of COPD. Polymorphisms of an MMP that upregulate its activity may result in the degradation of the lung matrix. A case-control study was performed to investigate the association of polymorphisms of the MMP14 gene with COPD. Japanese subjects (96 COPD patients and 61 controls) and Egyptian subjects (106 COPD patients and 72 controls) were recruited. Each subject was genotyped for seven single nucleotide polymorphisms (SNPs) of the MMP14 gene; -165 G/T and -72 G/A in the promoter region, +221 C/T in exon 1, +6727 C/G and +6767 G/A in exon 5, +7096 T/C in exon 6, and +8153 G/A in exon 8. The distributions of the genotype frequencies of these SNPs were not significantly different between the COPD patients and the controls in either ethnic group after correction of multiple comparisons. In the haplotype analysis, however, the haplotype -165 T : +221 T : +6727 C : +7096 C had a significantly higher frequency in the Egyptian COPD group than the control group (pcorr = 0.0063). The haplotype of the MMP14 gene, -165 T : +221 T : +6727 C : +7096 C, might be involved in the pathogenesis of COPD.

Aged↗
PubMed2006

[Polymorphisms of myocilin and optineurin in primary open angle glaucoma patients].

OBJECTIVE: To detect the single nucleotide polymorphisms (SNPs) of the myocilin (MYOC) and optineurin (OPTN) genes, and to investigate their associations with high tension glaucoma (HTG) and normal tension glaucoma (NTG). METHODS: SNPs were detected using polymerase chain reaction (PCR), followed by conformation sensitive gel electrophoresis (CSGE) and fluorescent labeling automated DNA sequencing among 94 unrelated patients with HTG, 48 unrelated patients with NTG, and 77 unrelated control subjects. RESULTS: Fourteen MYOC sequence alterations were identified, five of them: V53A, I304I, T347T, 1-126T > C, and IVS2 + 172C > A, were novel. Among them, V53A was for the first time found in primary open angle glaucoma (POAG) patient. R76K usually occurred with the promoter polymorphism 1-83G > A. No sequence alterations in the MYOC gene showed significant differences among the HTG, NTG and control subjects (all P > 0.05). A total of 12 sequence alterations were identified in the OPTN gene, and three of them: V161M, I407T and L211L, were novel. Among them, I407T and L211L were found only in the HTG patients. The allele and genotype frequencies of T34T in the NTG patients were significantly higher than those of the controls (P = 0.001 and 0.004 respectively). In HTG, only the allele frequency of T34T was 24% (23/96), significantly higher than those of the NTG group (16.5%, 31/188) and the control group (9.1%, 14/154) (both P < 0.05). In addition, IVS8 + 20G > A was found only in the HTG (3.1%, 3/96) and NTG patients (3.7%, 7/188), and had significantly higher frequencies in the HTG and NTG patients when compared with the controls (P = 0.016 and 0.014, and P = 0.027 and 0.026). CONCLUSION: Polymorphisms in the MYOC and OPTN genes are associated with POAG in Chinese people. Moreover, sequence alterations not causing amino acid changes may play a role in the pathogenesis of POAG.

Aged↗
PubMed2006

[Distribution of MIF -173 single nucleotide polymorphism checked by tetra-primer amplification refractory mutation system].

OBJECTIVE: To study the distribution of macrophagemigration inhibitory factor gene (MIF) -173 single nucleotide polymorphism (SNP) of Chinese Han population in Zhejiang province. METHODS: The DNA samples were extracted from EDTA blood of 142 unrelated healthy individuals. Alleles of MIF -173 SNP were genotyped by using the techniques of tetra-primer amplification refractory mutation system (ARMS) and restriction fragment length polymorphisms (RFLP)-PCR Meantime the PCR products were cloned and sequenced. RESULTS: The authors detected three kinds of genotypes at the MIF -173 locus, and no deviation was observed from Hardy-Weinberg equilibrium. The final results were the same completely, whatever either tetra-primer ARMS or RFLP-PCR was used to check the MIF -173 single nucleotide polymorphism. Statistical analysis showed that the distributions of MIF -173 SNP alleles and genotype frequencies were significantly different between Chinese Han population and European Caucasian(P< 0.01), but no significant difference demonstrated to happen between Chinese and Japanese(P> 0.05). CONCLUSION: Tetra-primer ARMS is an accurate, rapid and economical method for SNP genotyping.There exists ethnic difference in the distribution of MIF -173 SNP alleles.

Adult↗
PubMed1991

Validation studies on the analysis of the HLA DQ alpha locus using the polymerase chain reaction.

A series of experiments has been performed to evaluate typing of the HLA DQ alpha gene by polymerase chain reaction (PCR) amplification of the gene and subsequent hybridization with sequence-specific oligonucleotide probes. These experiments were designed to evaluate DQ alpha typing for analysis of evidentiary specimens. Bloodstains were exposed to a variety of conditions and environmental insults. These conditions included exposure to many different types of substrates, various microorganisms that could be encountered in evidentiary stains, sunlight, and a variety of chemical contaminants. Varying amounts of genomic deoxyribonucleic acid (DNA) were amplified to test the sensitivity of DQ alpha typing. The sensitivity of the PCR technique raises the concern that DNA from sources other than the evidentiary material could be detected. A series of experiments was done to evaluate the question of DNA contamination. Purified DNA samples with different DQ alpha types were mixed in different ratios to determine the ratio at which it could not be determined whether an allele was from the sample or the contaminant. Samples were exposed to a variety of situations that could lead to contamination, such as extensive handling and exposure to coughing or sweaty clothing, to other wet bloodstains, and to saliva. The DQ alpha types were determined from 469 individuals from three sample populations (Caucasian, black, and Hispanic), and the genotype frequencies were compared with frequencies previously reported by others. DNA samples from old cases [which had previously been analyzed by restriction fragment length polymorphism (RFLP) typing of variable number of tandem repeat sequences] were typed. All samples that were excluded by DQ alpha typing were also excluded by RFLP analysis, and all samples that were included by RFLP analysis were included by DQ alpha typing. Finally, the problem of allele dropout, or the failure to detect particular alleles, was noted and alleviated by performing the typing under appropriate conditions. The results of these validation experiments indicate that typing of the DQ alpha gene by PCR and detection of specific alleles can be accomplished, when the typing is done using proper protocols, without producing false positive or false negative results.

Algorithms↗
PubMed2006

[Lecithin-cholesterol acyltransferase gene 608C/T polymorphism associated with atherosclerotic cerebral infarction].

OBJECTIVE: To explore the distribution of lecithin-cholesterol acyltransferase gene (LCAT) 608C/T polymorphism in Chinese Han population and the relationship of the polymorphism association with the occurrence of atherosclerotic cerebral infarction. METHODS: The lecithin:cholesterol acyltransferase gene 608C/T polymorphism is identified by polymerase chain reaction (PCR), single-strand conformation polymorphism (SSCP)and restriction fragment length polymorphism (RFLP) in 150 patients with ACI and 122 healthy controls matching age and sex. RESULTS: The distribution of LCAT 608C/T gene polymorphism was in accordance with Hardy-Weinberg equilibrium. The CT genotype frequency (14.0%) and T allele frequency (7.0%) in ACI group were significantly higher than those in control group (P<0.05). The concentration of high density lipoprotein cholesterol (HDL-C) in 608CC subgroups were significantly higher than those in 608CT subgroups both in ACI group and in control group (P<0.05). CONCLUSION: The LCAT 608C/T polymorphism is possibly a predisposing factor in ACI happening of Chinese Han population. T allele frequency is possibly concerned with the metabolism of HDL-C.

Aged↗
PubMed2006

[Genetic polymorphisms of 5 X-STR loci in Yunnan Nu population].

OBJECTIVE: To investigate the allele and genotype frequencies of DXS6804, DXS6799, DXS8378, DXS7130 and DXS7132 in unrelated individuals of Nu population and establish the related genetic database. METHODS: Five X-STR loci were analyzed by PCR followed PAGE and silver staining. RESULTS: The allele frequencies of the five X-STRs in Yunnan Nu population are in accordance with Hardy-Weinberg equilibrium. CONCLUSION: Five X-STRs loci of Nu population could be used in forensic identification.

Alleles↗
PubMed1996

Angiotensin-converting enzyme insertion/deletion polymorphism and cerebrovascular disease.

BACKGROUND AND PURPOSE: There is evidence that an allelic variation in the angiotensin-converting enzyme (ACE) gene may confer an increased risk of vascular disease. The roles of the ACE insertion/deletion polymorphism and circulating ACE levels are unknown in cerebrovascular disease. METHODS: We studied an insertion/deletion polymorphism within intron 16 of the ACE gene by polymerase chain reaction and plasma ACE activity in 467 cases of stroke, the pathological type of which was established by cranial CT, and 231 control subjects. ACE genotype and activity were related to stroke type and mortality at 4 weeks and 3 months. RESULTS: No difference in genotype frequency was observed between all subjects with stroke and control subjects or between control subjects and subjects with cerebral infarction or cerebral hemorrhage. Plasma ACE activity was significantly lower in stroke patients at presentation (64.1 IU/L) than in control subjects (79.6 IU/L; P<.0001). Twenty-one patients (4.5%) with cerebral infarction died within 4 weeks and 56 patients (12%) within 3 months. These patients had significantly lower plasma ACE activity than patients who survived. There was some evidence that risk of death within 4 weeks increased with the number of D alleles (P=.02). Among survivors, plasma ACE activity showed a mean increase of 6.9 IU/L (95% confidence interval, 3.0 to 10.8) between levels at presentation and at 3 months (73.6 IU/L), the latter being similar to ACE activity in control subjects. CONCLUSIONS: Low ACE activity at sroke presentation and possession of the D allele may be associated with increased risk of early death from acute cerebral infarction.

Adult↗
PubMed1995

Distribution of the HLA-DQA1 polymorphism in the population of the Basque Country (Spain).

Allele and genotype frequencies at the HLA-DQA1 locus were determined in Basque Country populations using PCR methodology and a dot-blot assay with ASO probes. The results showed no deviation from the Hardy-Weinberg equilibrium. No differences were found between the three Basque Provinces, but gene frequencies were significantly different from those of some other Spanish and world populations.

Alleles↗
PubMed1997

Genetic individualization of domestic cats using feline STR loci for forensic applications.

A group of ten short tandem repeat (STR) loci suitable for PCR typing from DNA of domestic cats is evaluated for genetic individualization using blinded samples of eight putative feline blood specimens. The ten loci were also typed in a 70 member cat pedigree to demonstrate Mendelian inheritance and independent assortment. A "match window" or measurement precision estimate was empirically established by determining the maximum gel migration difference among alleles identical by descent in different individuals of the pedigree. Hardy-Weinberg equilibrium and abundant heterozygosity was observed for each locus in cat population samples from Canada and the USA. The probabilities of two unrelated individuals matching by chance (Pm) at all ten loci was estimated as 1.35 x 10(-10). We present a conservative approach to compute, for forensic consideration, the mathematical likelihood of a chance genotypic match between DNA evidence from a crime scene and the suspect composite STR genotypes for species or populations when genotype frequency information is not available.

Animals↗