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>

Recent advancement in miniSTR research / 法医学杂志

As the most popular and important inherited marker used in forensic identification, short tandem repeat (STR) always have partial DNA profiling or even no results when handling degraded or minute DNA sample. Through redesigning primers close to STR core repeats, MiniSTR can access shorter STR loci and increase success rate of DNA profiling in degraded or minute DNA sample. The review provides an update on the advancement of miniSTR research to give information in the practice of forensic science.

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.

Establishment of miniCTTA multiplex set with fluorescence-labeled primers / 南方医科大学学报

<p><b>OBJECTIVE</b>To establish a miniCTTA multiplex set including short tandem repeat (STR) markers as CSF1PO, TH01, and TPOX and amelogenin gene, whose amplified fragments are shorter than 130 bp.</p><p><b>METHODS</b>The length of the gene fragments amplified with fluorescence-labeled primers were analyzed by ABI3100 Genetic Analyzer for genotyping of 100 unrelated individuals, 10 genealogies and 30 highly degraded specimens.</p><p><b>RESULTS</b>The genotypes derived form miniCTTA were consistent with the results by AmpFLSTR Identifiler kit.</p><p><b>CONCLUSION</b>MiniCTTA multiplex set is useful for personal identification and paternity test, especially applicable for degraded DNA sample.</p>