摘要
目的对一例AB亚型且RHD阴性血型进行基因检测分型,并探讨其分子机制。方法使用微柱凝胶法和吸收放散实验对标本进行血清学检测。随后PCR扩增ABO基因外显子6、7和RHD外显子2-7、9、10、内含子4,扩增产物进行测序分析。对扩增产物较小的RHD5、9外显子,使用荧光定量PCR进行检测分析。结果患者血清学检测结果为AB亚型且RHD阴性,吸收放散实验阴性。Sanger法测序发现患者ABO基因发生3个突变,分别是EXON 6的58A>G和EXON 7的467C>T、898G>T。RHD基因外显子仅2、5、9存在,其他外显子缺失,测序未发现突变。结论患者ABO血型为AB亚型(携带EXON 6 58A>G和EXON7 467C>T、898T>G突变),RH血型为阴性(外显子3、4、6、7、10缺失),RHCE阳性。因此,对于复杂血型的鉴定与分型,分子生物学方法检测有其特殊的意义。
Objective： To identify a case of AB subtypes and RH negative blood group and explore the molecular mechanism. Methods： Using the micro column gel method and absorb radiation experiment finish serological detection. Subsequently, we amplified the axon 6, 7 of ABO and exon 2-7, 9, 10, intron 4 of RHD using PCR. We detect the PCR products by Sanger sequencing. For smaller RHD amplification products （exon5, 9） , we use fluorescence quantitative PCR detection to analysis. Results： The serological test results were AB and RHD negative, negative in absorb radiation experiments. We found three ABO gene mutations using Sanger sequencing. They were EXON 6 58A〉G and EXON 7 467C〉T, 898T〉G. THE exon 2, 5, 9 of RHD are exist, other exons is missing, we found no mutations using sequencing. Conclusion： The ABO blood group is AB subtype with the mutations that are 58 A〉G of EXON 6 and 467C〉T, 898T〉G of EXON 7.RH blood group is negative with exon 3, 4, 6, 7and 10 absent. RHCE is positive. Therefore, molecular biology method has its special significance to detect complex blood type.
出处
《中国优生与遗传杂志》
2017年第11期40-43,17,共5页
Chinese Journal of Birth Health & Heredity
