Null allele can bring to interpretative problems in a deficitary paternity case

Aldo Di Nunzio , Nadia Tinto , Fernanda Iafusco , Angelica Zibetti , Pietrantonio Ricci , Ciro Di Nunzio
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Abstract

An STR null allele is an allele at a microsatellite locus that fails to amplify. A possible cause is poor primer annealing due to nucleotide sequence divergence in the flanking primers. In this study, a woman (ZAM) wanted to know whether a man (PGAF) was the father of her child (ZGC). During the court settlement, PGAF died. PGAF’s parents refused to undergo DNA investigation and denied the access to biological fragments from their dead son. Although, DNA specimens were obtained from buccal swabs of ZAM, ZGC and PGAF’s paternal sister (PTFS). Initially, only autosomal profiles were studied, and kinship assignment was inconclusive. Following our requests, PGAF’s parents (PRGF and LLGM) led us to obtain their DNA specimens. Only with the PTFS genetic profile, we were not able to demonstrate a kinship assignment. PTFS showed a homozygosis at D8S1179 locus. Then, merely comparing PTFS, LLGM and ZGC autosomal genetic profiles it was possible to underline that they were three different homozygous at D8S1179 locus. Hence, comparing the peak heights in different loci and according to literature, they had to carry a null allele at this locus. Parental studies were completed by Y haplotype analysis.

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在亲子关系缺失的情况下,无等位基因会带来解释问题
STR无效等位基因是指微卫星基因座上无法扩增的等位基因。一个可能的原因是由于侧翼引物中的核苷酸序列差异导致引物退火不良。在这项研究中,一名女性(ZAM)想知道一名男性(PGAF)是否是她孩子(ZGC)的父亲。在法庭和解期间,PGAF去世。PGAF的父母拒绝接受DNA调查,并拒绝获得他们死去儿子的生物片段。尽管如此,DNA样本是从ZAM、ZGC和PGAF的妹妹(PTFS)的颊拭子中获得的。最初,只研究了常染色体图谱,亲属关系分配没有定论。根据我们的要求,PGAF的父母(PRGF和LLGM)带领我们获得了他们的DNA样本。仅通过PTFS基因图谱,我们无法证明亲缘关系。PTFS在D8S1179位点显示纯合性。然后,仅通过比较PTFS、LLGM和ZGC常染色体遗传图谱,就可以强调它们在D8S1179位点是三种不同的纯合型。因此,比较不同基因座的峰值高度,根据文献,他们必须在该基因座携带一个无效等位基因。父母研究通过Y单倍型分析完成。
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来源期刊
Forensic Science International: Genetics Supplement Series
Forensic Science International: Genetics Supplement Series Medicine-Pathology and Forensic Medicine
CiteScore
0.40
自引率
0.00%
发文量
122
审稿时长
25 days
期刊介绍: The Journal of Forensic Science International Genetics Supplement Series is the perfect publication vehicle for the proceedings of a scientific symposium, commissioned thematic issues, or for disseminating a selection of invited articles. The Forensic Science International Genetics Supplement Series is part of a duo of publications on forensic genetics, published by Elsevier on behalf of the International Society for Forensic Genetics.
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