1252T>G致新的弱D型血清学和分子生物学研究

Serology and molecular biology study of a new weak D phenotype caused by 1252T>G

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Rh D/C/c/E/e抗原,并采用间接抗球蛋白法(IAT)进一步鉴定Rh D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 analyze and study the serological and molecular biology characteristics of a new found weak D type individual. Methods RhD, D, C,c, E and e antigen phenotypes were tested by the saline method, and the D antigen was further tested by the indirect antiglobulin test （ IAT ） ; antibody screening was performed using the saline method and the indirect antiglobulin test. The CDE gene detection was conducted with a commercial RBC-Ready Gene CDE kit , and then sequenced to determine the changes of the 10 RHD exons. Results The sample was confirmed RHD-variant phenotype by our serological tests, and the other Rh factors were C＋c＋E-e＋ with negative antibody screening results. The CDE gene test indicated a DCcee type for the sample and the sequencing result showed a new mutation 1 252 T〉G at the exon 10 of the RHD gene while the other coding sequence was identical compared to normal RHD genotypes. Conclusion This individual possesses a new weak D type caused by the mutation of RHD 1 252 T〉G.