vWA STR locus structure and variability

被引：3

作者：

Cruz, C

Ribeiro, T

Vieira-Silva, C

Lucas, I

Espinheira, R

Geada, H

机构：

[1] Delegacao Lisboa Inst Nacl Med Legal, Forens Genet Serv, P-1150219 Lisbon, Portugal

[2] Fac Med, Dept Legal Med, Lisbon, Portugal

来源：

PROGRESS IN FORENSIC GENETICS 10 | 2004年 / 1261卷

关键词：

vWA locus; sequencing; mutations; forensic typing;

D O I：

10.1016/S0531-5131(03)01774-6

中图分类号：

Q5 [生物化学];

学科分类号：

071010 ; 081704 ;

摘要：

More than 100 vWA alleles were sequenced to detect any possible sequence difference at this locus in Portuguese Caucasian and African populations. Internal variability was detected-the most common structure is TCTA (TCTG)4 (TCTA)n with a TCTA(TCTG)3(TCTA)n structure more frequent in small alleles and a TCTA (TCTG)5-6 (TCTA)n structure predominantly in large ones, Allele 17 has a unique structure in all 20 studied samples and the nonconsensus allele 14 structure has a prevalence of 60% in both populations. Performing more than 3000 paternity investigation cases with multiplex systems, eight vWA mutations were detected with a 0.0024 average mutation rate. Six mutations at the primer-binding site have also been detected when performing ProfilerPlus/SGMPlus versus Powerplex1.2. (C) 2003 Elsevier B.V. All rights reserved.

引用

页码：248 / 250

页数：3