Abstract
A novel 39-plex typing system for single nucleotide polymorphisms (SNPs) has been developed. This multiplex approach has the advantage of being able to type 38 autosomal SNPs and one sex-discriminating base exchange site on the X and Y chromosomes rapidly and simultaneously. The SNP loci on the autosomes, which we examined, contain 15 loci distributed on blood type genes: three on RhCE, two each on Km and Gc, and one each on Duffy, AcP1, Tf, MN, GPT, EsD, PI, and Kidd genes. Thirty-seven genomic DNA fragments containing a total of 38 SNPs and one sex-discriminating site were amplified in one multiplex PCR reaction. Following the reaction, single nucleotide primer extension reaction was performed by dividing these SNP loci into five groups. The SNP type of each of the 39 loci was determined at one time by capillary electrophoresis using the newly designed multi-injection method. The combined PD (power of discrimination) of this typing system was (1-1.1)×10-14, and the MEC (mean exclusion chance) was 0.9990. We applied this system to forensic cases, including 16 paternity testing cases (13 non-exclusion and three exclusion cases) and one personal identification case. For the paternity testing cases, the highest Essen-Möller's W-value was 0.9999995. The pM (matching probability) of the personal identification case was 2.22×10 -17. These data showed that this system was an excellent tool for use in forensic cases of paternity testing and personal identification.
| Original language | English |
|---|---|
| Pages (from-to) | 45-57 |
| Number of pages | 13 |
| Journal | Forensic Science International |
| Volume | 144 |
| Issue number | 1 |
| DOIs | |
| Publication status | Published - Aug 11 2004 |
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Keywords
- Blood group loci
- Paternity testing
- Personal identification
- Power of discrimination
- Single nucleotide polymorphisms
- Single nucleotide primer extension
ASJC Scopus subject areas
- Genetics
- Analytical Chemistry
- Pathology and Forensic Medicine
- Psychiatry and Mental health
Cite this
A new 39-plex analysis method for SNPs including 15 blood group loci. / Inagaki, Sachiyo; Yamamoto, Yuji; Doi, Yusuke; Takata, Tomoyo; Ishikawa, Takaki; Imabayashi, Kiyomi; Yoshitome, Kei; Miyaishi, Satoru; Ishizu, Hideo.
In: Forensic Science International, Vol. 144, No. 1, 11.08.2004, p. 45-57.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - A new 39-plex analysis method for SNPs including 15 blood group loci
AU - Inagaki, Sachiyo
AU - Yamamoto, Yuji
AU - Doi, Yusuke
AU - Takata, Tomoyo
AU - Ishikawa, Takaki
AU - Imabayashi, Kiyomi
AU - Yoshitome, Kei
AU - Miyaishi, Satoru
AU - Ishizu, Hideo
PY - 2004/8/11
Y1 - 2004/8/11
N2 - A novel 39-plex typing system for single nucleotide polymorphisms (SNPs) has been developed. This multiplex approach has the advantage of being able to type 38 autosomal SNPs and one sex-discriminating base exchange site on the X and Y chromosomes rapidly and simultaneously. The SNP loci on the autosomes, which we examined, contain 15 loci distributed on blood type genes: three on RhCE, two each on Km and Gc, and one each on Duffy, AcP1, Tf, MN, GPT, EsD, PI, and Kidd genes. Thirty-seven genomic DNA fragments containing a total of 38 SNPs and one sex-discriminating site were amplified in one multiplex PCR reaction. Following the reaction, single nucleotide primer extension reaction was performed by dividing these SNP loci into five groups. The SNP type of each of the 39 loci was determined at one time by capillary electrophoresis using the newly designed multi-injection method. The combined PD (power of discrimination) of this typing system was (1-1.1)×10-14, and the MEC (mean exclusion chance) was 0.9990. We applied this system to forensic cases, including 16 paternity testing cases (13 non-exclusion and three exclusion cases) and one personal identification case. For the paternity testing cases, the highest Essen-Möller's W-value was 0.9999995. The pM (matching probability) of the personal identification case was 2.22×10 -17. These data showed that this system was an excellent tool for use in forensic cases of paternity testing and personal identification.
AB - A novel 39-plex typing system for single nucleotide polymorphisms (SNPs) has been developed. This multiplex approach has the advantage of being able to type 38 autosomal SNPs and one sex-discriminating base exchange site on the X and Y chromosomes rapidly and simultaneously. The SNP loci on the autosomes, which we examined, contain 15 loci distributed on blood type genes: three on RhCE, two each on Km and Gc, and one each on Duffy, AcP1, Tf, MN, GPT, EsD, PI, and Kidd genes. Thirty-seven genomic DNA fragments containing a total of 38 SNPs and one sex-discriminating site were amplified in one multiplex PCR reaction. Following the reaction, single nucleotide primer extension reaction was performed by dividing these SNP loci into five groups. The SNP type of each of the 39 loci was determined at one time by capillary electrophoresis using the newly designed multi-injection method. The combined PD (power of discrimination) of this typing system was (1-1.1)×10-14, and the MEC (mean exclusion chance) was 0.9990. We applied this system to forensic cases, including 16 paternity testing cases (13 non-exclusion and three exclusion cases) and one personal identification case. For the paternity testing cases, the highest Essen-Möller's W-value was 0.9999995. The pM (matching probability) of the personal identification case was 2.22×10 -17. These data showed that this system was an excellent tool for use in forensic cases of paternity testing and personal identification.
KW - Blood group loci
KW - Paternity testing
KW - Personal identification
KW - Power of discrimination
KW - Single nucleotide polymorphisms
KW - Single nucleotide primer extension
UR - http://www.scopus.com/inward/record.url?scp=3042741099&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=3042741099&partnerID=8YFLogxK
U2 - 10.1016/j.forsciint.2004.03.005
DO - 10.1016/j.forsciint.2004.03.005
M3 - Article
VL - 144
SP - 45
EP - 57
JO - Forensic Science International
JF - Forensic Science International
SN - 0379-0738
IS - 1
ER -