Y-chromosomal binary haplogroups in the Japanese population and their relationship to 16 Y-STR polymorphisms

Area of Science:

• Population Genetics
• Human Evolutionary Studies
• Forensic Science

Background:

• Y-chromosome polymorphisms are crucial for tracing paternal lineage and population history.
• Binary and Short Tandem Repeat (STR) markers offer complementary information for Y-chromosome analysis.
• Understanding Y-chromosome diversity in East Asian populations is vital for anthropological and forensic research.

Purpose of the Study:

• To investigate Y chromosomal binary and STR polymorphisms in the Japanese population.
• To examine the relationships between binary haplogroups and Y-STR types.
• To provide data for connecting haplogrouping and STR typing in East Asian populations.

Main Methods:

• Analysis of 263 unrelated Japanese males.
• Typing of 47 biallelic Y-chromosomal markers to define haplogroups.
• Typing of 16 Y-STR markers to determine haplotype diversity.
• Comparison of binary haplogroup data with Y-STR profiles.

Main Results:

• 20 Y-chromosomal haplogroups were identified, including four newly defined ones.
• Major Japanese Y-chromosome lineages include clades C, D, and O, with D2b and O2b accounting for 66%.
• High haplotype diversity was observed for both binary (86.3%) and STR (99.40%) markers.
• Significant associations were found between specific binary haplogroups and Y-STR loci variations.

Conclusions:

• The study successfully characterized Y-chromosome binary and STR polymorphisms in Japanese males.
• Established relationships between binary haplogroups and Y-STRs allow for reciprocal estimations.
• The findings facilitate the integration of anthropological and forensic Y-chromosome data in East Asia.