A single mutation in the FGA locus responsible for false homozygosities and discrepancies between commercial kits in an unusual paternity test case
A single mutation in the FGA locus responsible for false homozygosities and discrepancies between commercial kits in an unusual paternity test case
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DOI：
10.1111/j.1556-4029.2006.00357.x
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发表时间：
2007-03-01
影响因子：
1.6
通讯作者：
Genuardi, Maurizio
中科院分区：
文献类型：
--
作者：
Ricci, Ugo;Melean, German;Genuardi, Maurizio
我们报告一个不寻常的亲子鉴定案件显示多个特点。使用AmpFlSTR（（R））Profiler Plus和AmpFlSTR（（R））Identifiler PCR扩增试剂盒，据称的父亲和两个孩子在FGA基因座上显然是纯合的，但使用PowerFlSTR（（R））16试剂盒，发现这三个人是杂合的。脱落是由反向引物的假定结合位点中的单个突变事件引起的。此外，在18个STR标记中，发现女儿和据称的父亲之间有3个不一致。FGA基因座上罕见的无效等位基因的出现和病史表明，真正的父亲是所谓父亲的兄弟。此外，还在D16S539处检测到单步重复的母体突变。通过使用多种分析方法，包括使用不同的引物对，使用大量的STR标记，以及对导致“无效等位基因”的突变的表征，解决了这个令人困惑的病例。"
We report an unusual paternity test case showing multiple peculiarities. Using AmpFlSTR((R)) Profiler Plus and AmpFlSTR((R)) Identifiler PCR Amplification kits, the alleged father and the two children were apparently homozygous at the FGA locus, but using the PowerPlex((R)) 16 kit the three individuals were found to be heterozygous. Drop-out was caused by a single mutation event in the presumptive binding site of the reverse primer. In addition, three inconsistencies were detected between the daughter and the alleged father among 18 STR markers. The occurrence of the rare null allele at the FGA locus and case history suggested that the true father was the brother of the alleged father. Furthermore, a single-step repeat maternal mutation was also detected at D16S539. This puzzling case was solved by using multiple analytical approaches, including the use of different primer pairs, the use of a high number of STR markers, and the characterization of the mutation causing the "null allele."