Bugert Peter, Rink Gabriele, Kemp Katharina, Klüter Harald
Institute of Transfusion Medicine and Immunology, Medical Faculty Mannheim, Heidelberg University; German Red Cross Blood Service Baden-Württemberg - Hessen, Mannheim, Germany.
Transfus Med Hemother. 2012 Jun;39(3):182-186. doi: 10.1159/000339235. Epub 2012 May 15.
The ABO blood groups result from DNA sequence variations, predominantly single nucleotide and insertion/deletion polymorphisms (SNPs and indels), in the ABO gene encoding a glycosyltransferase. The ABO blood groups A(1), A(2), B and O predominantly result from the wild type allele A1 and the major gene variants that are characterized by four diallelic markers (261G>del, 802G>A, 803G>C, 1061C>del). Here, we were interested to evaluate the impact of ABO genotyping compared to ABO phenotyping in paternity testing. METHODS: The major ABO alleles were determined by PCR amplification with sequence-specific primers (PCR-SSP) in a representative sample of 1,335 blood donors. The genotypes were compared to the ABO blood groups registered in the blood donor files. Then, the ABO phenotypes and genotypes were determined in 95 paternity trio cases that have been investigated by 12 short tandem repeat (STR) markers before. We compared statistical parameters (PL, paternity likelihood; PE, power of exclusion) of both blood grouping approaches. RESULTS: The prevalence of the major ABO alleles and genotypes corresponded to the expected occurrence of ABO blood groups in a Caucasian population. The low resolution genotyping of 4 diallelic markers revealed a correct genotype-phenotype correlation in 1,331 of 1,335 samples (99.7%). In 60 paternity trios with confirmed paternity of the alleged father based on STR analysis both PL and PE of the ABO genotype was significantly higher than of the ABO phenotype. In 12 of 35 exclusion cases (34.3%) the ABO genotype also excluded the alleged father, whereas the ABO phenotype excluded the alleged father only in 7 cases (20%). CONCLUSION: In paternity testing ABO genotyping is superior to ABO phenotyping with regard to PL and PE, however, ABO genotyping is not sufficient for valid paternity testing. Due to the much lower mutation rate compared to STR markers, blood group SNPs in addition to anonymous SNPs could be considered for future kinship analysis and genetic identity testing.
ABO血型由编码糖基转移酶的ABO基因中的DNA序列变异产生，主要是单核苷酸和插入/缺失多态性（SNP和Indel）。ABO血型A(1)、A(2)、B和O主要由野生型等位基因A1和以四个双等位基因标记（261G>del、802G>A、803G>C、1061C>del）为特征的主要基因变体产生。在此，我们有兴趣评估ABO基因分型与ABO血型分型在亲子鉴定中的影响。方法：在1335名献血者的代表性样本中，通过序列特异性引物PCR（PCR-SSP）确定主要ABO等位基因。将基因型与献血者档案中登记的ABO血型进行比较。然后，在之前通过12个短串联重复序列（STR）标记进行调查的95例亲子鉴定三联体病例中确定ABO血型和基因型。我们比较了两种血型分组方法的统计参数（PL，父权可能性；PE，排除力）。结果：主要ABO等位基因和基因型的流行率与白种人群中ABO血型的预期发生率相符。4个双等位基因标记的低分辨率基因分型在1335个样本中的1331个（99.7%）中显示出正确的基因型-血型相关性。在60例基于STR分析确定被指控父亲亲子关系的亲子鉴定三联体中，ABO基因型的PL和PE均显著高于ABO血型。在35例排除病例中的12例（34.3%）中，ABO基因型也排除了被指控父亲，而ABO血型仅在7例（20%）中排除了被指控父亲。结论：在亲子鉴定中，就PL和PE而言，ABO基因分型优于ABO血型分型，然而，ABO基因分型不足以进行有效的亲子鉴定。由于与STR标记相比突变率低得多，除了匿名SNP外，血型SNP可考虑用于未来的亲属关系分析和遗传身份检测。
