Moliaka Iu K, Ovchinnikov I V, Shlenskiĭ A B, Korovaĭtseva G I, Rogaev E I
Genetika. 1997 Jun;33(6):831-5.
Analysis of hybridization probes for DNA genotypescopy (DNA genotyping and genome fingerprinting) was performed to detect 21 cases of paternity testing. A system with the highly informative multilocus DNA probe Red4, isolated by us earlier, and two single-locus probes (YNH24 and CMM101) detecting highly polymorphic (H > 96%) loci D2S44 and D14S13 was tested. In the cases analyzed, the Red probe was shown to detect, on average, 19.28 +/- 3.6 polymorphic BsuRI fragments in the DNA profile of presumable fathers and 19.67 +/- 5.84 BsuRI fragments in the DNA profile of mothers. The average number of DNA fragments inherited by a child from either parent was approximately equal (8.72 +/- 3.77 and 7.11 +/- 2.66, respectively). The low population frequency of DNA fragments detected by the Red4 probe allowed highly effective positive paternity identification to be performed. Paternity was established in 86% (with probability > 99.75 or > 99.99%) and excluded in 14% of expertises. Single-locus probes YNH24 and CMM101 were used as an additional criterion in cases when, in the DNA profile of a child, a single band (probable de novo mutation) or several bands (probable false paternity or maternity) were revealed but absent in both presumable parents. In once case, a de novo mutation for the YNH24 probe, not described earlier, was revealed. Therefore, a combination of multilocus and single-locus hybridization probes appeared to be the most promising method for significant paternity testing in forensic and medical genetic practice.
为检测21例亲子鉴定案例,进行了用于DNA基因型拷贝分析(DNA基因分型和基因组指纹识别)的杂交探针分析。测试了一个系统,该系统使用我们之前分离的信息丰富的多位点DNA探针Red4以及两个检测高度多态性(H>96%)位点D2S44和D14S13的单一位点探针(YNH24和CMM101)。在所分析的案例中,Red探针显示,在推定父亲的DNA图谱中平均检测到19.28±3.6个多态性BsuRI片段,在母亲的DNA图谱中平均检测到19.67±5.84个BsuRI片段。孩子从父母双方遗传的DNA片段平均数量大致相等(分别为8.72±3.77和7.11±2.66)。Red4探针检测到的DNA片段的低群体频率使得能够进行高效的父系阳性鉴定。在86%的鉴定中确定了亲子关系(概率>99.75或>99.99%),在14%的鉴定中排除了亲子关系。当在孩子DNA图谱中发现单一条带(可能是新生突变)或几条带(可能是假父系或母系)但在推定父母双方中均未出现时,单一位点探针YNH24和CMM101被用作附加标准。在一个案例中,发现了一个此前未描述的YNH24探针的新生突变。因此,多位点和单一位点杂交探针的组合似乎是法医和医学遗传学实践中进行重要亲子鉴定最有前景的方法。