Objective: We report the results of Y-chromosomal profile and mtDNA (mitochondrial DNA) of the Chevalier Bayard (1476?-1524). Methods: His genomic DNA was extracted from a tooth of his mandible. His Y-STRs profile was...Objective: We report the results of Y-chromosomal profile and mtDNA (mitochondrial DNA) of the Chevalier Bayard (1476?-1524). Methods: His genomic DNA was extracted from a tooth of his mandible. His Y-STRs profile was obtained using the AmFirst identifier PCR amplification kit. The mtDNA genomic sequence intervals for HVR1 and HVR2 were amplified by PCR, with specific primers. Results: We obtained the complete STR (Short Tandem Repeats) profile, based on fourteen STRs (DYS19, DYS385.a, DYS389.I and .b, DYS390, DYS391, DYS392, DYS393, DYS438, DYS439, DYS448, DYS456 and DYS458 and Y-GATA-H4). The deduced Y-STRs profile corresponds to the sub-clade S21 of the major European haplogroup R1b-M269 (the “Germanic” haplotype). There are six mutations (16093C, 16211T and 16519C in the HVR1 sequence, 263G, 309.1C and 315.1C in the HVR2 sequence) in the mtDNA of Bayard. The 263G mutation determines the H mtDNA haplogroup and the 16211T suggests the H5 sub-clade of the H haplogroup (a sub-clade found at >8% frequency in France, at the periphery of the Alpine arch region). This sub-clade H5 (subsequently assimilated to the H10e haplotype) is that (with a perfect match) of a modern living male related (to 32 generations) to the Bayard maternal ascendance. The Bayard mtDNA haplotype was found once only in a database of 100 South-German mtDNA control sequences. Conclusions: The resulting R1b-M269 Y haplogroup established confirms the Germanic origin of the Bayard ancestors, suggested by genealogic studies concerning his paternal ascendance. The result concerning the mtDNA H10e haplotype found in the modern living male related to Bayard by matrilinear ascendance establishes that the DNA tooth is well of him, with a 99% of chance.展开更多
Short tandem repeats on the Y chromosome(Y-STRs),characterized by paternal inheritance,are valuable in forensic practice.Notably,the potential application of Y-STRs in pedigrees should be drawn upon,especially in Chin...Short tandem repeats on the Y chromosome(Y-STRs),characterized by paternal inheritance,are valuable in forensic practice.Notably,the potential application of Y-STRs in pedigrees should be drawn upon,especially in China’s surname-concentrated natural villages.The study focused on 50 Y-STRs,including 13 rapidly mutating(RM)Y-STRs that largely constitute the current Y-STR commercial kits,and determined the differences in these Y-STRs between branches in a large pedigree and the discriminatory power of these haplotypes in different units for male relatives.As indicated in the results,14 inconsistencies were observed at 9 Y-STRs between 10 father-son pairs.In addition,these 50 Y-STR haplotypes discriminated 10 out of 47 father-son pairs,106 of 148 cousin pairs,70 of 119 uncle-nephew pairs,17 of 39 brother pairs,and 14 out of 33 grandfather-grandson pairs in a large pedigree.The RM Y-STR set is able to differentiate close male relatives in a large pedigree.展开更多
To evaluate the promising advantages of massively parallel sequencing(MPS)in our casework,we analysed a total of 33 Y-chromosomal short tandem repeats(Y-STRs)with traditional capillary electrophoresis(CE)and 25 Y-STRs...To evaluate the promising advantages of massively parallel sequencing(MPS)in our casework,we analysed a total of 33 Y-chromosomal short tandem repeats(Y-STRs)with traditional capillary electrophoresis(CE)and 25 Y-STRs using the newer MPS technology.We studied the outcome of both technologies in 64 father-son pairs using stock and custom-designed kits.Current MPS technology confirmed the 13 mutational events observed with CE and improved our understanding of the complex nature of STR mutations.By detecting isometric sequence variants between unrelated males,we show that sequencing Y-STRs using MPS can boost discrimination power.展开更多
文摘Objective: We report the results of Y-chromosomal profile and mtDNA (mitochondrial DNA) of the Chevalier Bayard (1476?-1524). Methods: His genomic DNA was extracted from a tooth of his mandible. His Y-STRs profile was obtained using the AmFirst identifier PCR amplification kit. The mtDNA genomic sequence intervals for HVR1 and HVR2 were amplified by PCR, with specific primers. Results: We obtained the complete STR (Short Tandem Repeats) profile, based on fourteen STRs (DYS19, DYS385.a, DYS389.I and .b, DYS390, DYS391, DYS392, DYS393, DYS438, DYS439, DYS448, DYS456 and DYS458 and Y-GATA-H4). The deduced Y-STRs profile corresponds to the sub-clade S21 of the major European haplogroup R1b-M269 (the “Germanic” haplotype). There are six mutations (16093C, 16211T and 16519C in the HVR1 sequence, 263G, 309.1C and 315.1C in the HVR2 sequence) in the mtDNA of Bayard. The 263G mutation determines the H mtDNA haplogroup and the 16211T suggests the H5 sub-clade of the H haplogroup (a sub-clade found at >8% frequency in France, at the periphery of the Alpine arch region). This sub-clade H5 (subsequently assimilated to the H10e haplotype) is that (with a perfect match) of a modern living male related (to 32 generations) to the Bayard maternal ascendance. The Bayard mtDNA haplotype was found once only in a database of 100 South-German mtDNA control sequences. Conclusions: The resulting R1b-M269 Y haplogroup established confirms the Germanic origin of the Bayard ancestors, suggested by genealogic studies concerning his paternal ascendance. The result concerning the mtDNA H10e haplotype found in the modern living male related to Bayard by matrilinear ascendance establishes that the DNA tooth is well of him, with a 99% of chance.
基金This work was supported by the National Natural Science Foundation of China[grant number 81401557]This study was funded by ICH-GCP Standardization Construction and Innovation of GCP System[grant number 2018ZX09201018-020].
文摘Short tandem repeats on the Y chromosome(Y-STRs),characterized by paternal inheritance,are valuable in forensic practice.Notably,the potential application of Y-STRs in pedigrees should be drawn upon,especially in China’s surname-concentrated natural villages.The study focused on 50 Y-STRs,including 13 rapidly mutating(RM)Y-STRs that largely constitute the current Y-STR commercial kits,and determined the differences in these Y-STRs between branches in a large pedigree and the discriminatory power of these haplotypes in different units for male relatives.As indicated in the results,14 inconsistencies were observed at 9 Y-STRs between 10 father-son pairs.In addition,these 50 Y-STR haplotypes discriminated 10 out of 47 father-son pairs,106 of 148 cousin pairs,70 of 119 uncle-nephew pairs,17 of 39 brother pairs,and 14 out of 33 grandfather-grandson pairs in a large pedigree.The RM Y-STR set is able to differentiate close male relatives in a large pedigree.
基金supported by the Internal Security Funding Police Program of the European Commission-Directorate General MigrationHome Affairs under the European Commission[grant number HOME/2014/ISFP/AG/LAWX/4000007135].
文摘To evaluate the promising advantages of massively parallel sequencing(MPS)in our casework,we analysed a total of 33 Y-chromosomal short tandem repeats(Y-STRs)with traditional capillary electrophoresis(CE)and 25 Y-STRs using the newer MPS technology.We studied the outcome of both technologies in 64 father-son pairs using stock and custom-designed kits.Current MPS technology confirmed the 13 mutational events observed with CE and improved our understanding of the complex nature of STR mutations.By detecting isometric sequence variants between unrelated males,we show that sequencing Y-STRs using MPS can boost discrimination power.