The risk factors and preventive measures of hospital infections on preoperative children with cleft lips and palates / 华西口腔医学杂志

OBJECTIVE@#To analyze the risk factors of preoperative upper respiratory infections in children with cleft lips and palate (CLP) and investigate preventive measures to reduce infections and improve the quality of treatments.@*METHODS@#A total of 510 children with CLP of ages 3 years old or younger were selected from hospital cases from June to December 2017. The test group comprised 50 children with upper respiratory infections, whereas the control group comprised 460 children without upper respiratory infections. A t-test and a multivariate logistic analysis were utilized to analyze the risk factors and to investigate the preventive measures.@*RESULTS@#Feeding patterns, the presence of infected companions during hospitalization, and ventilation at night were statistically significant. The feeding patterns and the presence of infected companions during hospitalization were independent risk factors for upper respiratory infections in children with CLP.@*CONCLUSIONS@#Bottle feeding, infected companions during hospitalization, and the absence of window ventilation at night are risk factors for preoperative upper respiratory infections in children 3 years old or younger with CLP. Among the risk factors identified, feeding patterns and the presence of infected companion during hospitalization were the most influential. Medical staff members should streng-then corresponding health education and nursing measures to control the risk factors.

Calculation of the avuncular index / 法医学杂志

OBJECTIVE@#To introduce the method of avuncular index (AI) calculation.@*METHODS@#Identity by decent coefficient, coancestry coefficient and AI law were employed in identification of uncle-niece relationship, when autosomal STR loci were detected to determine controversial uncle-niece relationship.@*RESULTS@#The results of AI calculation were coincidental using identity by descent coefficien, coancestry coefficient and AI law.@*CONCLUSION@#The results are coincidental using three methods in the different situations. AI index is higher with participation of children's mother.

Types and frequencies of variants in Amelogenin gene in Chinese population / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To investigate the types and frequencies of variants in Amelogenin gene in Chinese population and to explore the mutations' influence to the sex test.</p><p><b>METHODS</b>The Amelogenin gene of 8850 unrelated Chinese individuals was typed with PowerPlex 16 system. The samples with abnormal typing results were calculated directly, validated with different primer sets, Y-STR typing and sequencing.</p><p><b>RESULTS</b>Two samples with X chromosomal Amelogenin (AMELX) allelic dropout and 2 samples with Y chromosomal Amelogenin (AMELY) allelic dropout were observed in male individuals, the total rate of mutation was 0.045% and the rate in the male was 0.085%. Two types of point mutation which may result in null allele were observed in the primer binding region of the plostq AMELX alleles, and the mutation rate in the male was 0.042%. The mutation rate of AMELY allele was also 0.042%. One sample failed to amplify 10 Y-STR loci out of 12 loci, which could be speculated that large interstitial deletion of the Y chromosome encompassing the AMELY and other Y-STR loci occurred.</p><p><b>CONCLUSION</b>AMELX or AMELY allelic dropout may occur due to the mutation of Amelogenin gene, which may interfere with the sex test and induce wrong gender identification.</p>

Genetics of heteroplasmy in the mtDNA control region among the Chinese Han population / 法医学杂志

OBJECTIVE@#To explore the distribution and genetic pattern of heteroplasmy of mtDNA control region among Chinese Han population.@*METHODS@#The human mtDNA control region was amplified into 6 amplicons overlapped partially each other. Then these amplicons were analyzed by DHPLC which we developed to detect low heteroplasmic signals.@*RESULTS@#There were 51 heteroplasmic cases (34%) found from different tissues of 150 unrelated individuals of the Chinese Han population. mtDNA heteroplasmy shows non-uniform distribution in various tissues. The highest occurrence of heteroplasmy was in brain tissues (50/150) and myocardium (48/150), the lowest was in bone tissues (22/150). 36 sites of heteroplasmy were identified in our samples. Three sites of mtDNA heteroplasmy rarely co-existed in one individual. No sex differences were detected in the frequency of mtDNA heteroplasmy. No change in the mtDNA heteroplasmy profile was detected of blood samples from the same individuals within 2 years. Individuals older than 41 years showed a heteroplasmy frequency significantly higher than their younger counterparts. Members from the same maternal pedigree in a family can share the same sites of mtDNA heteroplasmy but may have different heteroplasmy contents at those sites.@*CONCLUSION@#DHPLC is a highly sensitive technique in detecting heteroplasmy. mtDNA heteroplasmy widely exists in the Chinese Han population. The results shown here could potentially have a guidable value in forensic individual identification and parentage testing.

Comparation on Haversian system between human and animal bones by imaging analysis / 法医学杂志

OBJECTIVE@#To explore the differences in Haversian system between human and animal bones through imaging analysis and morphology description.@*METHODS@#Thirty-five slices grinding from human being as well as dog, pig, cow and sheep bones were observed to compare their structure, then were analysed with the researchful microscope.@*RESULTS@#Plexiform bone or oeston band was not found in human bones; There were significant differences in the shape, size, location, density of Haversian system, between human and animal bones. The amount of Haversian lamella and diameter of central canal in human were the biggest; Significant differences in the central canal diameter and total area percentage between human and animal bones were shown by imaging analysis.@*CONCLUSION@#(1) Plexiform bone and osteon band could be the exclusive index in human bone; (2) There were significant differences in the structure of Haversian system between human and animal bones; (3) The percentage of central canals total area was valuable in species identification through imaging analysis.

Mutations of 15 short tandem repeat loci in Chinese population / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To explore the mutations of 15 short tandem repeat (STR) loci in PlowerPlex16 System which are world-widely used in parentage testing.</p><p><b>METHODS</b>Mutations of 15 STR loci in PlowerPlex16 System were investigated in 1921 parentage testing cases from Chinese population.</p><p><b>RESULTS</b>In 1921 parentage cases, seventy cases (3.644%) were found to have mutations. Among these were one case with double mutations (D21S11 and PentaD) and another case with two different mutations (D7S820 and D16S539) in two children. The total number of mutated STR loci observed was 72 over 3764 meiosis with a mutation rate of 0.128% +/- 0.1104% x 10(-3). The highest mutation rate was 0.292% at vWA and D21S11. No mutation was observed at TH01 or at TPOX. The mutated alleles coming from father were five times more than those from mother. The majority (98.611%) of mutated alleles were the results of one-step mutation. The ratio of one-step gain versus loss was 1.826:1. There was only one multiple-step mutation with a double-repeat gain observed at PentaD locus. In the PlowerPlex16 System, nine loci, namely D8S1179, Penta D, D13S317, D16S539, D7S820, D5S818, D3S1358, TH01 and TPOX, have lower mutation rates and are more suitable for parentage testing.</p><p><b>CONCLUSION</b>Mutation of STR is relatively common and often makes parentage testing more complicated. Selecting stable STR locus with low mutation rate is more important in parentage testing.</p>

Seven Y-specific loci haplotypes and their usefulness in forensic casework / 法医学杂志

OBJECTIVE@#To study genetic polymorphism of 7 Y-specific short tandem repeats (STR) and assess their usefulness in forensic casework.@*METHODS@#7 Y-STR have been amplified in two multiplex reactions, (Multiplex I:DYS391, GATA-A4, GATA-A10 and GATA-H4. Multiplex II:DYS439,DYS437 and DYS434). PCR products were separated by polyacrylamide gels electrophoresis followed by silver stain.@*RESULTS@#When 372 unrelated individuals from the Han population in Guangdong were detected by those system, DYS391, GATA-A4, GATA-A10, GATA-H4,DYS439,DYS437 and DYS434 showed 5,7,6,5,6,4,4 alleles, respectively. A total of 254 different haplotypes were identified, of which 201 (79.13%) were found in single individuals. The overall haplotypes diversity reached 0.9960.@*CONCLUSION@#The 7 Y-STR loci are highly genetic polymorphism and they will be very powerful for establishing Y-STR database, understanding human origin, paternity testing and personal identification.

Genotype reliability of short tandem repeats typing from minute DNA / 法医学杂志

OBJECTIVE@#To understand the forensic practice of DNA profiling from minimal amount of DNA.@*METHODS@#Serial dilutions of DNA were amplified with the PowerPlex 16 System Kit, then the genotyping of short tandem repeat(STR) was performed by ABI 377 DNA automated Sequencer.@*RESULTS@#When the mount of DNA template was less than 250 pg, allelic drop-out apparently occurred at several loci. Other disturbed peaks, such as artefact bands and imbalanced heterozygote, also presented.@*CONCLUSION@#The anomalous results may result in incorrect genotyping. Careful and comprehensive considerations are needed to interpret the STR profile of minute DNA.