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目的 分析研究1例新的弱D型个体的血清学和分子生物学特点。方法 采用盐水法鉴定RhD/C/c/E/e抗原,并采用间接抗球蛋白法(IAT)进一步鉴定RhD抗原,采用盐水法和抗人球蛋白法进行抗体筛查;采用商用基因检测试剂盒对标本进行CDE基因检测;对其RHD基因10个外显子序列进行测序分析比对。结果 血清学检测显示该标本为D变异型,RHCE血型为C+c+E-e+,抗体筛查为阴性。CDE基因试剂盒检测为DCcee,RHD外显子序列测序分析发现第10外显子存在1 252 T>G碱基突变,其余外显子序列则与正常RHD基因一致。结论 该标本存在RHD1 252 T>G碱基突变,为新的弱D型。
Objective To study the serological and molecular biological characteristics of a new patient with weak D type. Methods The RhD / C / c / E / e antigen was identified by salt water method, RhD antigen was further identified by indirect antiglobulin method (IAT), and the antibody was screened by saline method and anti-human globulin method. The CDE gene was detected in the box. Ten exon sequences of RHD gene were sequenced and analyzed. Results Serological tests showed that the specimen was D variant, RHCE blood group was C + C + E-e +, antibody screening was negative. CDE gene kit detected DCcee, RHD exon sequence analysis found exon 10 exon 1 252 T> G base mutation, the rest of the exon sequence is consistent with the normal RHD gene. Conclusion There is RHD1 252 T> G base mutation in this specimen, which is a new weak D type.