ABSTRACT
<p><b>OBJECTIVE</b>To analyze linkage disequilibrium of 12 short tandem repeat loci on chromosome X (X-STR) among an ethnic Han population from Guilin, Guangxi, and to study the genetic linkage and haplotype distributions of such loci in 2 linkage groups.</p><p><b>METHODS</b>12 X-STR loci including DXS8378, DXS10159, DXS10162, DXS10164, DXS981, DXS6789, DXS7424, DXS101, DXS7133, GATA165B12, GATA31E08 and DXS7423 were genotyped using an AGCU X12 STR PCR Amplification kit. A total of 119 pedigrees were analyzed for linkage and linkage disequilibrium.</p><p><b>RESULTS</b>Two mutations were found at DXS7424, and 1 mutation was found at DXS10164. A total of 93 haplotypes of DXS10159-DXS10162-DXS10164 were constructed for 261 unrelated males and females, in addition with 167 haplotypes of DXS6789-DXS7424-DXS101-DXS7133. The values of recombination fraction between DXS10159 and DXS10162, DXS10162 and DXS10164, DXS6789 and DXS7424, and DXS7424 and DXS101 were 0.0269, 0.0236, 0.0505 and 0.0438, respectively.</p><p><b>CONCLUSION</b>Linkage disequilibrium of X-STR does not only depend on physical and genetic distances. There was incomplete linkage relationship between loci on DXS10159-DXS1016-DXS10164 and DXS6789-DXS7424-DXS101 linkage groups.</p>
Subject(s)
Adolescent , Adult , Child , Child, Preschool , Female , Humans , Male , Middle Aged , Young Adult , Asian People , Ethnology , Genetics , China , Ethnology , Chromosomes, Human, X , Genetics , Haplotypes , Linkage Disequilibrium , Microsatellite Repeats , PedigreeABSTRACT
<p><b>OBJECTIVE</b>To obtain population genetic data at 15 short tandem repeat(STRs) in Shandong Han population.</p><p><b>METHODS</b>Fifteen STRs were genotyped in 200 unrelated individuals from Shandong Han population using Identifiler(TM) Kit.</p><p><b>RESULTS</b>In this Shandong Han population, the observed heterozygosities of the 15 loci ranged from 0.605 to 0.882, and the expected heterozygosities were 0.625-0.862, the polymorphic information contents ranged from 0.57 to 0.85, the discrimination powers ranged from 0.795 to 0.958, and the exclusion probabilities ranged from 0.297 to 0.758. The non-differentiation exact P values at TPOX loci were more than 0.05 between Shandong and Han population of Henan, Jilin, and Jiangsu. The non-differentiation exact P values between Shandong Han population and others populations were more than 0.05 at others loci. The P value at D13S317 was more than 0.05 between Shandong Han population and Ewenki population.</p><p><b>CONCLUSION</b>These loci are polymorphic in Shandong Han population, and the discrimination powers and exclusion probabilities were high in the 15 STRs except TPOX and TH01.</p>
Subject(s)
Female , Humans , Male , Asian People , Genetics , Chromosomes, Human , Genetics , Ethnicity , Genetics , Forensic Genetics , Gene Frequency , Genome, Human , Genetics , Genomics , Heterozygote , Microsatellite Repeats , Genetics , Polymorphism, GeneticABSTRACT
With the development of genomics and the accomplishments of human genomic sequencing, polymorphic markers and their analytic approaches are more and more important, and much attention has been paid to the fact that the analysis of single nucleotide polymorphisms utilizing matrix-assisted laser desorption/ionization time-of-flight mass spectrometry(MALDI-TOF MS) is a high-throughput approach. MALDI-TOF MS can also mini-sequence and genotype short tandem repeat. The approaches to analyzing single nucleotide polymorphisms are primer oligonucleotide base extension, ligase reaction, peptide nucleotide acid, invader assay, and so on.
Subject(s)
Humans , Genotype , Microsatellite Repeats , Genetics , Polymorphism, Single Nucleotide , Genetics , Reproducibility of Results , Spectrometry, Mass, Matrix-Assisted Laser Desorption-Ionization , MethodsABSTRACT
<p><b>OBJECTIVE</b>To construct a genetic map based on data from the Chinese population in northern part of China and to compare relationship between physical distance and genetic distance on chromosome 22.</p><p><b>METHODS</b>PCR amplification was employed to genotype 6 STR loci on chromosome 22, and pedigree analysis was performed.</p><p><b>RESULTS</b>A genetic map of Chinese Han population in the northern part of China was constructed and a preliminary comparison of the physical and genetic distances between 6 STR loci on chromosome 22 was made.</p><p><b>CONCLUSION</b>There is complex relationship between genetic distance and physical distance: the distance between STR loci is related to physical distance but also recombination fraction, and there are differences of the genetic and physical distances on chromosome 22 between Chinese and Caucasian, and between the male and female.</p>
Subject(s)
Female , Humans , Male , China , Chromosome Mapping , Chromosomes, Human, Pair 22 , Genetics , Genotype , Microsatellite Repeats , Genetics , PedigreeABSTRACT
The Rh blood group system is one of the most complex and important systems known in humans. It has two homologous structure genes in tandem on 1p34.3-36.1 that encode Rh protein. The Rh protein is a membrane in red blood cell that has 12 transmembrane spans. Rh antigens have many variants; there are three genetic polymorphisms in the RhD-negative individual. The Rh blood group system is of great significance in clinical transfusion and hemolytic disease of the newborn (HDN). Rh PCR genotyping is used for prenatal diagnosis in fetus, but still it has some defects, and in this connection further knowledge about Rh system will be necessary to solve the problem.
Subject(s)
Humans , Infant, Newborn , Erythroblastosis, Fetal , Blood , Rh-Hr Blood-Group System , Blood , GeneticsABSTRACT
Chromosome Y does not recombine with any other at meiosis except that on pseudoautosomal region. Polymorphic markers on the chromosome Y are paternal inheritance and are haploidly inherited. Variance of the sequences comes from accumulated mutation. These properties make them unique and important not only to anthroponomy and genetics but also to forensic science and medicine.