Association of five SNPs at the PARK16 locus as a susceptibility locus with Parkinson's disease for forensic application / 法医学杂志

To investigate the association of five SNPs (rs823083, rs708723, rs4951261, rs823076 and rs16856110) at the PARK16 locus with Parkinson's disease (PD), and to potentiate its forensic application. The genomic DNAs of 215 PD patients and 212 matched controls from the northern Han Chinese population were amplified in two independent PCR systems and subsequently genotyped by digestion with the three endonucleases (Hinf I, Nco I and Msp I ). The genetic parameters and association studies were carried out with SPSS 13.0, Haploview version 4.2 and PLINK 1.07 softwares. We detected accurately all genotypes in the five SNPs with multiplex PCR-RFLP and mismatched multiplex PCR-RFLP techniques. The genotypes of four SNPs, except for rs823083, were in Hardy-Weinberg equilibrium. The four SNPs, rs16856110, rs4951261, rs708723 and rs823076, which were in linkage equilibrium, should not be associated with PD (P-values ranging from 0.077 to 0.544). The SNPs investigated at the PARK16 locus were not found to be involved in PD-associated blocks in the northern Han Chinese population. The allele distributions of rs708723, rs4951261, rs823076 and rs16856110 in the northern Han Chinese population can be highly polymorphic, which can be applied to genetic analysis and forensic practices.

Lack of association between three single nucleotide polymorphisms in the PARK9, PARK15, and BST1 genes and Parkinson's disease in the northern Han Chinese population / 中华医学杂志(英文版)

<p><b>BACKGROUND</b>Parkinson's disease (PD) is an autosomally inherited neurodegenerative disease in elderly people. The etiology of PD has long been thought to be associated with both genetic and environmental factors. To explore potential genetic risk factors for PD in the northern Han Chinese population, we investigated three single nucleotide polymorphisms (SNPs) (rs4538475, rs11107 and rs12564040) in the BST1, PARK15 and PARK9 genes.</p><p><b>METHODS</b>Genomic DNA from 215 PD patients and 212 matched controls was amplified in two independent PCR systems and subsequently genotyped by digestion with the endonuclease PstI. Genetic parameter and association studies were carried out with SPSS 13.0 and PLINK 1.07 software.</p><p><b>RESULTS</b>We could accurately detect all genotypes in the three loci with the PCR-RFLP or mismatched PCR-RFLP techniques. The observed heterozygosities of the rs4538475 and rs11107 loci in PD and control groups ranged from 0.460 - 0.481 and 0.410 - 0.441, in BST1, PARK15 respectively, while we detected no heterozygosity at the rs12564040 locus in PARK9. The similar distributions of genotypic frequency between both groups suggest that the three SNPs investigated in this study are unlikely to play roles as common risk factors or pathogenic mutations for PD in northern Han Chinese.</p><p><b>CONCLUSION</b>The SNPs investigated in the BST1, PARK15 and PARK9 genes associated with PD susceptibility are not associated with PD in the northern Han Chinese population.</p>

Distribution specificity of human fucosyltransferase 5 and its expression and localization in spermatids / 法医学杂志

OBJECTIVE@#To investigate distribution specificity of human fucosyltransferase 5 (FUT5) as well as its expression and localization in spermatids.@*METHODS@#Human semen, vaginal swab, saliva and venous blood from healthy individuals were collected. The spermatids were isolated and the spermatid membrane protein was then extracted. Expression levels of FUT5 from human spermatid membrane, seminal plasma, vaginal fluid, saliva and serum were detected by immunoblotting technique. The expression and localization of FUT5 in spermatids were analyzed by immunofluorescent method.@*RESULTS@#Immunoblotting technique showed that FUT5 was expressed on spermatid membranes and in serum, but not in seminal plasma, vaginal fluid and saliva. The expressed FUT5 on spermatids was mostly localized on head of spermatids by fluorescent microscopy, suggesting that there was certain amount of FUT5 on human spermatid membrane, and the spermatids might be isolated from mixed stains with vaginal fluid by antigen-antibody reaction.@*CONCLUSION@#Human FUT5 shows a characteristic distribution specificity, and this feature may be used for identification of mixed stain involved in criminal sexual offence in future forensic practice.

The genetic diversity in the full coding region of human FUT5 gene in a Chinese Han population / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To reveal the sequence variations of the full coding region of the human alpha (1,beta/1,4) fucosyltransferase 5 gene (FUT5) in a Chinese Han population.</p><p><b>METHODS</b>The whole coding region of the FUT5 gene was amplified and sequenced in a total of 30 unrelated Chinese Han individuals. The PCR products containing the nucleotide variants observed in the study were subcloned into plasmid pcDNA to determine all potential haplotypes in the investigated population. Genetic polymorphisms of C560T (rs778970) and C484A loci were further analyzed by polymerase chain reaction-restriction fragment length polymorphism(PCR-RLFP) method.</p><p><b>RESULTS</b>In addition to seven previously reported base substitutions, two novel polymorphisms, namely C484A (Leu162Met) and T684C, were found in the coding region of the FUT5 gene in the 30 individuals. Seven haplotypes were identified by subcloning the variants into plasmid and subsequent DNA sequencing. The allele frequencies in the rs778970 locus in 160 Chinese Han individuals was 0.3031 for 560C and 0.6969 for 560T, while no polymorphism was detected in the C484A locus.</p><p><b>CONCLUSION</b>The sequence of the coding region in the human FUT5 gene demonstrated high genetic diversity, and the allelic distribution of the rs778970 locus in the Chinese populations is polymorphic.</p>