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Somatic and germinal mutations in STRs

Title
Somatic and germinal mutations in STRs
Type
Article in International Conference Proceedings Book
Year
2000
Authors
Amorim, A
(Author)
FCUP
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Alves, C
(Author)
Other
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Gusmao, L
(Author)
FCUP
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Conference proceedings International
Pages: 37-39
18th Congress of the International-Society-for-Forensic-Haemogenetics (ISFH)
SAN FRANCISCO, CA, AUG 17-21, 1999
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Publicação em ISI Web of Knowledge ISI Web of Knowledge - 0 Citations
Scientific classification
FOS: Medical and Health sciences > Other medical sciences
Other information
Authenticus ID: P-001-252
Abstract (EN): We report the study of meiotic and mitotic stability of 12 autosomal STRs included in Perkin Elmer's Profiler Plus Kit (D381358, D5S818, D7S820, D8S1179, D13S317, D18S51, D21S11, FGA, and VWA) and the Promega CTTv multiplex (which includes CSF1PO, TH01, TPO and VWA). PCR amplification and genotyping were performed according to manufacturer's instructions using ABI 377 or ABI 310 automatic sequencers. We searched for (a) transmission incompatibilities and (b) presence of extra alleles (more than two amplified fragments in the same individual). We have observed one exclusion in each of the systems: D3S1358, D7S820 and D8S1179. All are explainable by single step mutations. We have furthermore observed in D3S1358 a healthy individual with three PCR fragments both in blood and buccal swab DNA extracts.
Language: English
Type (Professor's evaluation): Scientific
No. of pages: 3
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