RESUMEN
OBJECTIVE: To investigate genetic polymorphisms of 21 non-CODIS STR loci in Han population from the east of China and to explore their forensic application value. METHODS: Twenty-one non-CODIS STR loci, were amplified with AGCU 21+1 STR kit and DNA samples were obtained from 225 unrelated individuals of the Han population from the east of China. The PCR products were analyzed with 3130 Genetic Analyzer and genotyped with GeneMapper ID v3.2 software. The genetic data were statistically analyzed with PowerStats v12.xls and Cervus 2.0 software. RESULTS: The distributions of 21 non-CODIS STR loci satisfied the Hardy-Weinberg equilibration. The heterozygosity (H) distributions were 0.596-0.804, the discrimination power (DP) were 0.764-0.948, the probability of exclusion of duo-testing (PEduo) were 0.176-0.492, the probability of exclusion of trios-testing (PEtrio) were 0.334-0.663, and the polymorphic information content (PIC) were 0.522-0.807. The cumulative probability of exclusion (CPE) of duo-testing was 0.999707, the CPE of trios-testing was 0.9999994, and the cumulated discrimination power (CDP) was 0.99999999999999999994. CONCLUSION: Twenty-one non-CODIS STR loci are highly polymorphic. They can be effectively used in personal identification and paternity testing in trios cases. They can also be used as supplement in the difficult cases of diad paternity testing.
Asunto(s)
Pueblo Asiatico/genética , Repeticiones de Microsatélite/genética , Polimorfismo Genético , Alelos , Pueblo Asiatico/etnología , China/etnología , ADN/genética , ADN/aislamiento & purificación , Genética Forense/métodos , Frecuencia de los Genes , Sitios Genéticos/genética , Genotipo , Humanos , Reacción en Cadena de la PolimerasaRESUMEN
OBJECTIVE: To screen a panel of SNP loci on X chromosome (X-SNP loci) that is informative in Chinese Han population and evaluate its potential value in forensic identification. METHODS: Sixty-seven candidate X-SNP loci were selected according to the information on dbSNP and HapMap. Genomic DNA extracted from blood samples of 428 unrelated Chinese Han individuals were analyzed through multiplex amplification followed by matrix assisted laser desorption/ionization time-of-flight mass spectrometry, and allele frequencies of the 67 X-SNP loci were calculated. In view of the population data and situation of linkage disequilibrium, X-SNP markers promising in forensic identification were sorted out. RESULTS: Population data of the 67 X-SNP loci were obtained. Except rs12849634, no deviations from Hardy-Weinberg equilibrium could be found. Of the rest 66 X-SNP loci, two loci (rs1229078 and rs1544545) were found to be low informative (minor allele frequency < 0.3). Closely linked alleles were observed at six pairs of X-SNP loci and slightly linked alleles were observed at two pairs of X-SNP loci. Fifty-two X-SNP loci showing independent inheritance and high polymorphisms were finally selected. The markers were promising in forensic identification. CPE in trio and duo cases were 0.999 999 999 96 and 0.999 999 5, respectively. CDP in female and male populations were 0.999 999 999 999 999 999 999 84 and 0.999 999 999 999 999 31, respectively. CONCLUSION: A panel of 52 informative X-SNP loci showing independent inheritance is selected. These markers meet the needs of individual identification and relationship testing in judicially disputed cases.
Asunto(s)
Cromosomas Humanos X/genética , Desequilibrio de Ligamiento , Reacción en Cadena de la Polimerasa/métodos , Polimorfismo de Nucleótido Simple , Alelos , Pueblo Asiatico/genética , China/etnología , Femenino , Genética Forense/métodos , Frecuencia de los Genes , Genética de Población , Genotipo , Humanos , Masculino , Paternidad , Espectrometría de Masa por Láser de Matriz Asistida de Ionización Desorción/métodosRESUMEN
BACKGROUND: There have been limited comparative data regarding the investigations on pulmonary and respiratory muscle function in the patients with different parkinsonism disorders such as Parkinson's disease (PD) and multiple system atrophy (MSA) versus normal elderly. The present study is aiming to characterize the performance of pulmonary function and respiratory muscle strength in PD and MSA, and to investigate the association with severity of motor symptoms and disease duration. METHODS: Pulmonary function and respiratory muscle strength tests were performed in 30 patients with PD, 27 with MSA as well as in 20 age-, sex-, height-, weight-matched normal elderly controls. All the patients underwent United Parkinson's disease rating scale (UPDRS) or united multiple system atrophy rating scale (UMSARS) separately as diagnosed. RESULTS: Vital capacity, forced expiratory volume in 1 second and forced vital capacity decreased, residual volume and ratio of residual volume to total lung capacity increased in both PD and MSA groups compared to controls (p<0.05). Diffusing capacity was decreased in the MSA group, compared with PD and normal elderly control groups (p<0.05). Respiratory muscle strength was lower in both PD and MSA groups than in controls (p<0.05). The values representing spirometry function and respiratory muscle strength were found to have a negative linear correlation with mean score of UPDRS-III in PD and mean score of UMSARS-I in MSA. Respiratory muscle strength showed a negative linear correlation with the mean score of UMSARS-II and disease duration in MSA patients. CONCLUSIONS: These findings suggest that respiratory dysfunction is involved in PD and MSA. Respiratory muscle strength is remarkably reduced, and some of the parameters correlate with disease duration and illness severity. The compromised respiratory function in neurodegenerative disorders should be the focus of further researches.