Mosebach Mira, Parkner Andreas, Jakubiczka Sybille, Wieacker Peter, Heim Marcell U
Institute of Transfusion Medicine and Immunohematology and the Institute of Human Genetics, Otto-von-Guericke University Magdeburg, Magdeburg, Germany.
Transfusion. 2006 Nov;46(11):1978-81. doi: 10.1111/j.1537-2995.2006.01005.x.
Chimerism is the presence of two or more genetically distinct cell populations in one organism.
We report the identification of dispermic chimerism in a 19-year-old female volunteer blood donor. During routine ABO blood grouping strong reactions of the blood donors red blood cells (RBCs) with anti-A reagents and mixed-field reactions with anti-B reagents were observed, while serum-testing showed the absence of anti-A and anti-B antibodies. AB0 blood group genotyping, HLA-typing and microsatellite analysis were performed using blood-samples, buccal mucosa and fibroblasts of the blood-donor and blood-samples of her parents.
AB0 blood group genotyping showed three ABO blood group alleles (0(1), A(2) and B) in the DNA-samples of the blood-donor. The evidence of chimerism was supported by the detection of three alleles for the HLA-A and HLA-DRB1 loci. Microsatellite analysis with ten markers revealed three alleles for loci D7S821 and D19S412. All studies carried out, the third allele was always of paternal origin. CONCLISION: The results suggested a case of a human dispermic chimerism. Our proposed explanation for the development of chimerism in the reported case is the fertilization of an oocyte and the corresponding second polar body by two different sperms.
嵌合体是指一个生物体中存在两种或更多种基因不同的细胞群体。
我们报告了一名19岁女性志愿献血者中双精受精嵌合体的鉴定情况。在常规ABO血型分组过程中,观察到献血者红细胞(RBC)与抗A试剂发生强烈反应,与抗B试剂发生混合视野反应,而血清检测显示不存在抗A和抗B抗体。使用献血者及其父母的血液样本、口腔黏膜和成纤维细胞进行ABO血型基因分型、HLA分型和微卫星分析。
ABO血型基因分型显示献血者DNA样本中有三个ABO血型等位基因(O(1)、A(2)和B)。HLA - A和HLA - DRB1基因座检测到三个等位基因,支持了嵌合体的证据。对十个标记进行的微卫星分析显示基因座D7S821和D19S412有三个等位基因。所有研究表明,第三个等位基因总是来自父方。
结果提示这是一例人类双精受精嵌合体病例。我们对报告病例中嵌合体形成的推测解释是,一个卵母细胞和相应的第二极体被两个不同的精子受精。