ABSTRACT
OBJECTIVE@#To investigate the genetic polymorphisms of 21 non-combined DNA index system short tandem repeat (STR) loci in Hainan Li population.@*METHODS@#DNA samples from 339 unrelated healthy individuals of Li population from Hainan Province were extracted and amplified with fluorescence labeled multiplex PCR system. PCR products were electrophoresed on an ABI3130 Genetic Analyzer following the manufacturer's instructions. Allele designation was performed with a GeneMapper ID-X by comparison with the allele ladder provided by the corresponding kit.@*RESULTS@#A total of 173 alleles and 489 genotypes were observed for the 21 STR loci, respectively. The frequencies of alleles and genotypes were 0.0010-0.5434 and 0.0020-0.3274, respectively. The heterozygosity varied from 0.639 to 0.833. Discrimination power (DP) was 0.803-0.948, power of exclusion for trio-paternity was 0.416-0.584, power of exclusion for duo-paternity was 0.140-0.238, the polymorphism information content(PIC) was 0.57-0.81, respectively. The total discrimination power (TDP), cumulative probability of exclusion for trio-paternity testing(CPE-trio) and cumulative probability of exclusion for duo-paternity testing (CPE-duo) were 0.999 999 999 999 99, 0.999 999 883 211 752, and 0.987 266, respectively.@*CONCLUSION@#The 21 STR loci are highly polymorphic and informative in the studied population and can be employed as supplementary loci in duo-paternity testing or cases with variant circumstances.
Subject(s)
Humans , Asian People/genetics , China , DNA , Gene Frequency , Genetics, Population , Microsatellite Repeats/genetics , Polymorphism, GeneticABSTRACT
OBJECTIVE@#To identify a rare large off ladder (OL) allele at the Penta E locus.@*METHODS@#Chelex-100 was used to extract DNAs from the blood samples. The PCR fragments were purified, extracted, and subjected to TA cloning and sequencing.@*RESULTS@#An OL allele was identified by the PowerPlex™ 21 at the Penta E locus, which was postulated as allele 26 based on assigned size. The OL allele was verified as a novel fragment containing 26 full AAAGA repeats.@*CONCLUSION@#OL alleles and microvariants should be verified by direct sequencing. Typing of OL alleles has significance for both daily work and forensic genetics.
Subject(s)
Alleles , Polymerase Chain Reaction , RubiaceaeABSTRACT
OBJECTIVE@#To study genetic polymorphisms of 23 autosomal short tandem repeat (STR) loci among ethnic Han Chinese from southern China.@*METHODS@#The 23 autosomal STR loci among 331 unrelated healthy Han Chinese from southern China were genotyped with fluorescent multiplex amplification and capillary electrophoresis. Genetic parameters were subjected to statistical analysis.@*RESULTS@#In total 265 alleles and 890 genotypes were detected for the 23 STR loci. The numbers of alleles were 5-22, allelic frequency was 0.0015-0.5483, heterozygosity was 0.5891-0.9124, power of discrimination was 0.7818-0.9831, polymorphic information content was 0.5425-0.9031, probability of exclusion for trio-paternity testing was 0.2780-0.8208, and probability of exclusion for duo-paternity testing was 0.193-0.693. The combined power of discrimination was over 0.999 999 999 999 99, the combined probability of exclusion for trio-paternity identification was 0.999 999 999 729 813, and the combined probability of exclusion for duo-paternity identification was 0.999 999 207 508 474, respectively. The 23 STR loci showed no significant deviation from Hardy-Weinberg disequilibrium after Bonferroni correction (P> 0.05).@*CONCLUSION@#The 23 autosomal STR loci were highly polymorphic among ethnic Han Chinese from southern China, which showed a high efficiency for paternity testing, personal identification and population genetics.
Subject(s)
Humans , Asian People , China , Gene Frequency , Genetics, Population , Genotype , Microsatellite Repeats , Polymorphism, GeneticABSTRACT
DEAD-box family protein is a kind of ATP dependent RNA helicase,which plays a critical role in RNA metabolism.The DEAD-box family proteins can affect cell proliferation,differentiation,and apoptosis through regulating the expression of oncogenes,tumor suppressor genes and tumor related signaling pathways.It plays the role in promoting or suppressing cancer.