Department of Genetics and Evolutionism, Institute of Zoology and Biomedical Research, Jagiellonian University, Gronostajowa 9, 30-387 Kraków, Poland.
Forensic Genetics Section, Institute of Forensic Research, Westerplatte 9, 31-033 Kraków, Poland.
Genes (Basel). 2021 Jan 4;12(1):62. doi: 10.3390/genes12010062.
DNA testing in cases of disputed paternity is a routine analysis carried out in genetic laboratories. The purpose of the test is to demonstrate similarities and differences in analyzed genetic markers between the alleged father, mother, and a child. The existence of differences in the examined loci between the child and the presumed father may indicate the exclusion of biological parenthood. However, another reason for such differences is genetic mutations, including chromosome aberrations and genome mutations. The presented results relate to genetic analyses carried out on three persons for the purposes of disputed paternity testing. A deviation from inheritance based on Mendel's Law was found in 7 out of 53 STR-type loci examined. All polymorphic loci that ruled out the paternity of the alleged father were located on chromosome 2. Additional analysis of 32 insertion-deletion markers (DIPplex, Qiagen) and sequencing of 94 polymorphic positions of the single nucleotide polymorphism (SNP) type (Illumina, ForenSeq) did not exclude the defendant's biological paternity. A sequence analysis of STR alleles and their flanking regions confirmed the hypothesis that the alleles on chromosome 2 of the child may originate only from the mother. The results of the tests did not allow exclusion of the paternity of the alleged father, but are an example of uniparental maternal disomy, which is briefly described in the literature.
在亲子关系纠纷案件中进行的 DNA 检测是遗传实验室中进行的常规分析。该测试的目的是证明被指控的父亲、母亲和孩子之间分析的遗传标记的相似性和差异性。在被检查的基因座中，孩子与假定父亲之间存在差异可能表明生物学亲子关系的排除。然而，出现这种差异的另一个原因是遗传突变，包括染色体异常和基因组突变。本文介绍了为解决亲子关系纠纷而对三个人进行的遗传分析结果。在检查的 53 个 STR 型基因座中，有 7 个出现了不符合孟德尔定律的遗传。所有排除假定父亲亲权的多态性基因座都位于 2 号染色体上。对 32 个插入缺失标记（DIPplex，Qiagen）进行额外分析，并对单核苷酸多态性（SNP）类型的 94 个多态性位置进行测序（Illumina，ForenSeq），均不能排除被告的生物学亲权。对 STR 等位基因及其侧翼区域的序列分析证实了孩子 2 号染色体上的等位基因可能仅来自母亲的假设。检测结果不能排除假定父亲的亲权，但这是母体单亲二体性(uniparental maternal disomy)的一个例子，在文献中有简要描述。
