D6S1043基因座等位基因丢失1例

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1案例资料1.1简要案情2012年5月受理某男(假设父)、某女(假设母)和女儿的亲权鉴定。采集上述3人指血于血样采集卡上备检。1.2 DNA分型检验采用Chelex-100法提取基因组DNA,采用SinofilerTM试剂盒(美国AB公司)TaKaRa TP-600扩增,产物经3130遗传分析仪检测,GeneMapper IDv 3.2软件分析。发现在D6S1043基因座上某女为19纯合子,父亲为14/15,女儿为15纯合子(图1),不符合孟德尔遗传规律,其余14个STR基因座均符合遗传规律。再采用GoldeneyeTM20A(北京基点认知公司)进行检测,结果在D6S1043基因座上某女为18/19,女儿为15/18(图1),其余18个STR基因座均符合遗传规律。根据上述结果计算CPI值为384 272 667.2。 1 Case Information 1.1 Brief Case Study In May 2012, the paternity test of a male (assumed parent), a female (assumed mother) and a daughter was accepted. Acquisition of the above three finger blood collection card in the blood samples for inspection. 1.2 DNA typing test using Chelex-100 extraction of genomic DNA using SinofilerTM kit (AB USA) TaKaRa TP-600 amplification, the product was detected by the 3130 Genetic Analyzer, GeneMapper IDv 3.2 software analysis. Found in the D6S1043 locus of a 19 female homozygous, father 14/15, daughter 15 homozygotes (Figure 1), does not meet the Mendelian laws of inheritance, and the remaining 14 STR loci are in line with the genetic law. Then using GoldeneyeTM20A (Beijing base point cognitive company) for testing, the results of a female at the D6S1043 locus was 18/19, daughter 15/18 (Figure 1), and the remaining 18 STR loci are in line with the genetic law. Based on the above results, the CPI was calculated as 384 272 667.2.
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