Serological and genetic analysis of a rare CisAB01/O01 blood group

The paper aims to analyze a rare blood sample in Ganzhou City Hospital with CisAB subtype and explore a feasible pattern for blood typing of rare blood type patients, so as to ensure clinical transfusion safety. The routine serological methods were used for ABO forward and reverse blood typing and the fluorescence real-time PCR technique was used for sample genotyping. A human ABO blood group 6-7 exon sequencing kit was used for sequence analysis. The nucleic acid sequence of the sample was compared with reference sequences. The forward typing results demonstrated that the sample was ABw, RhD positive. The sample exhibited 4+ agglutination with anti-H and anti-AB antibodies. Reverse typing by microcolumn gel method showed an AB result, but the serum sample demonstrated weak agglutination with B cell under room temperature, 4 °C and 37 °C in saline when tested with tube method respectively. The serological results matched with the A₂B₃ serotype. The fluorescent real-time PCR genotyping results displayed A/O01. The sequence analysis demonstrated deletion of guanine in 261-position 467C>T (heterozygote) and 803G>T (heterozygote) mutation respectively. The mutation caused the A glycosyltransferase peptide chain to change from proline to leucine (P156L) at 156 and from glutamate to alanine (G268A) at 268. The result demonstrated that the sample''s genotype was CisAB01/O01. The mutation of glycosyltransferase coding gene leads to an abnormal serological reaction pattern. Only by combining the results of genetic analysis can we get the true sample blood type and better ensure the safety of clinical blood transfusion.     

ABO血型异常遗传的肯定亲子案例分析

目的：对ABO血型遗传异常而DNA多态性检测又肯定亲生血缘关系案例进行分析,探究特殊案例的原因,与同行共享。方法：收集近几年芙蓉司法鉴定中心违反ABO血型遗传规律的三个案例,通过PCR复合扩增和ABI3130遗传分析仪对3个亲子鉴定案例8份血样本进行检测。双亲进行了15个常染色体STR基因位点,单亲进行了22个常染色体STR基因位点分析。结果：三个案例均极强力支持父母（父亲）与孩子之间存在亲生血缘关系。结论：凭违反ABO血型遗传规律排除亲生血缘关系显然是不行的,必须以DNA多态性检测为判断标准。