TY - JOUR
T1 - Effect of reference database on frequency estimates of polymerase chain reaction (PCR)-based DNA profiles
AU - Monson, Keith L.
AU - Budowle, Bruce
PY - 1998/5
Y1 - 1998/5
N2 - A variety of general, regional, ancestral and ethnic databases is available for the polymerase chain reaction (PCR)-based loci LDLR, GYPA, HBGG, D7S8, Gc, DQA1, and D1S80. Generally, we observed greater differences in frequency estimations of DNA profiles between racial groups than between ethnic or geographic subgroups. Analysis revealed few forensically significant differences within ethnic subgroups, particularly within general United States groups, and multi-locus frequency estimates typically differ by less than a factor of ten. Using a database different from the one to which a target profile belongs tends to overestimate rarity. Implementation of the general correction of homozygote frequencies for a population substructure, advised by the 1996 National Research Council report, The Evaluation of Forensic DNA Evidence, has a minimal effect on profile frequencies. Even when it is known that both the suspect and all possible perpetrators must belong to the same isolated population, the special correction for inbreeding, which was proposed by the 1996 National Research Council report for this special case, has a relatively modest effect, typically a factor of two or less for 1% inbreeding. The effect becomes more substantial (exceeding a factor of ten) for inbreeding of 3% or more in multi-locus profiles rarer than about one in a million.
AB - A variety of general, regional, ancestral and ethnic databases is available for the polymerase chain reaction (PCR)-based loci LDLR, GYPA, HBGG, D7S8, Gc, DQA1, and D1S80. Generally, we observed greater differences in frequency estimations of DNA profiles between racial groups than between ethnic or geographic subgroups. Analysis revealed few forensically significant differences within ethnic subgroups, particularly within general United States groups, and multi-locus frequency estimates typically differ by less than a factor of ten. Using a database different from the one to which a target profile belongs tends to overestimate rarity. Implementation of the general correction of homozygote frequencies for a population substructure, advised by the 1996 National Research Council report, The Evaluation of Forensic DNA Evidence, has a minimal effect on profile frequencies. Even when it is known that both the suspect and all possible perpetrators must belong to the same isolated population, the special correction for inbreeding, which was proposed by the 1996 National Research Council report for this special case, has a relatively modest effect, typically a factor of two or less for 1% inbreeding. The effect becomes more substantial (exceeding a factor of ten) for inbreeding of 3% or more in multi-locus profiles rarer than about one in a million.
KW - D758 EC
KW - DQA1
KW - Forensic science
KW - Frequency estimation
KW - GYPA
KW - HBGG
KW - LDLR
KW - Polymerase chain reaction
KW - Population databases
KW - Population genetics
UR - http://www.scopus.com/inward/record.url?scp=0031805763&partnerID=8YFLogxK
U2 - 10.1520/jfs16173j
DO - 10.1520/jfs16173j
M3 - Article
C2 - 9608687
AN - SCOPUS:0031805763
SN - 0022-1198
VL - 43
SP - 483
EP - 488
JO - Journal of forensic sciences
JF - Journal of forensic sciences
IS - 3
ER -