Forensic Biotechnology

Graduate Level Course

Forensic Ancestry

Forensic Genealogy
The Aryan
Migration

25/11/21 | 3
 Ancestry
• Continental ancestry- The geographical origin of populations (e.g. European-ancestry).

• Biogeographic ancestry- To describe populations/individuals for whom the geographic

origin of their predecessors is different from their current place of residence (e.g.,
African Americans, or European Americans).

• Familial ancestry (history)- To refer to the genetic background of individuals, or to

sections of DNA along a chromosome, as inferred by the analysis of multilocus
genotypes.
 Ancestry-Informative Markers (AIMs)
• Sets of polymorphisms for a particular DNA sequence that appear in substantially
different frequencies between populations from different geographical regions of the
world.

• AIMs can be used to estimate the geographical origins of the ancestors of an

individual typically by continent of origin (Africa, Asia, or Europe).

• A major application of AIMs is to reduce false positives in association studies.

25/11/21 Yang, HC., Chen, CW., Lin, YT. et al. Commun Biol 4, 171
| 6 (2021)
Ø Lineage markers (unlike autosomal DNA markers) are uni-parentally passed from
one generation to the next without changing (except for mutational events).

Ø Paternal lineages may be tracked with genetic markers on the non-recombining

portion of the Y-chromosome (NRY) that are passed from father to son.

Ø Maternal lineages may be followed as mothers pass their mitochondrial DNA

(mtDNA) on to their children.
Ø Autosomal STRs provide a higher power of discrimination and are the preferred method
whenever possible

Ø Due to capabilities for male-specific amplification, Y-chromosome STRs (Y-STRs)

can be useful in extreme female-male mixtures (e.g., when differential extraction is not
possible such as fingernail scrapings)

Ø Due to high copy number, mitochondrial DNA (mtDNA) may be the only source of
surviving DNA in highly degraded specimens or low quantity samples such as hair
shafts
Lineage Markers: Y-STRs and mtDNA

Advantages Disadvantages

Extend possible reference samples Lower power of discrimination due

beyond a single generation (benefits to no genetic shuffling with
missing persons cases and genetic recombination
genealogy)
Family members have
Family members have indistinguishable haplotypes unless
indistinguishable haplotypes unless mutations have occurred
mutations have occurred
 Patterns of Genetic Inheritance

Lineage Markers

Autosomal Y-Chromosome Mitochondrial

(passed on in part, (passed on complete, but (passed on complete,
from all ancestors) only by sons) but only by daughters)

John M. Butler (2009) Fundamentals of Forensic DNA Typing, Figure 16.1

Female-Male Mixture Performance with Autosomal vs. Y-Chromosome DNA Markers

Female Victim No signal observed

DNA Profile

Male Perpetrator
DNA Profile

DNA Profile from

Crime Scene

Autosomal STR Y-Chromosome STR Profile

Profile

John M. Butler (2009) Fundamentals of Forensic DNA Typing, Figure 16.2

Patrilineal Inheritance Where All Shaded Males
Have the Same Y-Chromosome (barring any
mutations)

uncle 3rd cousin

? (paternal)

Y-STRs permit extension of possible reference samples in missing persons cases

Mitochondrial DNA Inheritance Patterns
1 A B 2

MtDNA Haplotype Groups:

1 3 4 5 6 7 8

B D B E B
2,3,6,8,11,13,15,16 C

4,9,10
5
9 10 11 12 13 14
7
C C B F B G
12
14,17,18
15 16 17 18

B B G G