Y Chromosome DNA
Variation Monitored by
SNP and STR Analysis
ELPHAS SHIKOKOTI SIAYI
CHI 4th Annual DNA Forensics Meeting
, Presentation Outline
• Advantages of Y Chromosome Markers
• Y Chromosome Structure and Variation
• Commonly Used Y Chromosome Markers
• Y STR Multiplex Assays
• Population Studies
• Y SNP Markers
• Y Chromosome Work at NIST
Why the Y Chromosome?
• Applications
– forensic investigations (98% of violent crime by men)
, – genealogical purposes
– evolutionary studies
• Advantages to Human Identity Testing
– male component isolated without differential extraction
– paternal lineages
• Needs
– population studies to evaluate diversity of haplotypes
– robust assay for accurate characterization of Y markers
Y Chromosome Structure
SRY ~60 Mb total DNA sequence
p(only AMEL chromosome 22 is smaller)
, ~2.5 Mb on tips recombine with X
(pseudoautosomal regions)
q
35-36 Mb euchromatin
9.5 Mb sequenced (27%)
heterochromatin along the Y chromosome is
combined chromosome is
combined
Nucleic Acids Res. 28(2), e8 (2000) to form a to form a Y
Genetic variation at haplotypeY haplotypefor a
Genetic variation at for a
multiple points along samplesample
the Y multiple points
Variation Monitored by
SNP and STR Analysis
ELPHAS SHIKOKOTI SIAYI
CHI 4th Annual DNA Forensics Meeting
, Presentation Outline
• Advantages of Y Chromosome Markers
• Y Chromosome Structure and Variation
• Commonly Used Y Chromosome Markers
• Y STR Multiplex Assays
• Population Studies
• Y SNP Markers
• Y Chromosome Work at NIST
Why the Y Chromosome?
• Applications
– forensic investigations (98% of violent crime by men)
, – genealogical purposes
– evolutionary studies
• Advantages to Human Identity Testing
– male component isolated without differential extraction
– paternal lineages
• Needs
– population studies to evaluate diversity of haplotypes
– robust assay for accurate characterization of Y markers
Y Chromosome Structure
SRY ~60 Mb total DNA sequence
p(only AMEL chromosome 22 is smaller)
, ~2.5 Mb on tips recombine with X
(pseudoautosomal regions)
q
35-36 Mb euchromatin
9.5 Mb sequenced (27%)
heterochromatin along the Y chromosome is
combined chromosome is
combined
Nucleic Acids Res. 28(2), e8 (2000) to form a to form a Y
Genetic variation at haplotypeY haplotypefor a
Genetic variation at for a
multiple points along samplesample
the Y multiple points
