| 1 例RHD*weak D type 72 患者的血型鉴定及家系RHD 基因序列分析 |
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| 引用本文： | 庄乃保,吴 凡,张艳艳,梁 爽,梁延连,苏宇清,彭 龙.1 例RHD*weak D type 72 患者的血型鉴定及家系RHD 基因序列分析[J].现代检验医学杂志,2022,0(4):149-153. |
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| 作者姓名： | 庄乃保 吴 凡 张艳艳 梁 爽 梁延连 苏宇清 彭 龙 |
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| 作者单位： | 深圳市血液中心，广东深圳 518035 |
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| 摘 要： | 目的 研究1 例RhD 血型鉴定部分凝集结果个体及其家系血清学表现和RHD 基因。方法 通过血型微柱凝胶卡检测先证者ABO 及RhD 血型；盐水试管法检测先证者及其父母RhCcEe 抗原；间接抗人球蛋白试验(indirect antihumanglobulin test，IAT) 及流式细胞术检测先证者RhD 抗原。PCR 序列特异性引物(PCR sequence specific primer, PCRSSP)检测RHD 基因以及RhD 杂合型分析，基因测序方法分析RHD 基因编码区序列。结果 血清学检测发现先证者血型为A 型RhCcee，血型微柱凝胶卡、盐水试管法以及IAT 法检测RhD 抗原，结果呈部分凝集现象。流式细胞术结果显示先证者RhD 抗原性减弱。经RHD 基因编码序列分析发现，RHD 基因第9 外显子上的第1212 位碱基发生C ＞A 纯合突变，为RHD*weak D type 72 的特征性突变点。家系调查显示，先证者父亲为O 型RhCCDee，母亲为A 型RhCcDee。父亲携带RHD*weak D type 72 等位基因，基因型为RHD*weak D type 72 / RHD+；母亲一条染色体缺失了全部的RHD 基因，基因型为RHD+/ RHD-。证明先证者分别从父亲和母亲遗传RHD*weak D type 72 和RHD-等位基因，基因型为RHD*weak D type 72 / RHD-。结论 发现了1 例RHD*weak D type 72/RHD-基因型个体，丰富了RHD*weakD type 72 变异型的研究数据。根据家系调查证明，RHD*weak D type 72 等位基因由遗传获得，而非由个体基因变异形成。
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| 关 键 词： | Rh 血型 RhD 变异型 RHD 基因 家系调查 |
Blood Group Identification and Family Investigation of a Patient with RHD*weak D Type 72 Allele |
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| ZHUANG Nai-bao,WU Fan,ZHANG Yan-yan,LIANG Shuang,LIANG Yan-lian,SU Yu-qing,PENG Long.Blood Group Identification and Family Investigation of a Patient with RHD*weak D Type 72 Allele[J].Journal of Modern Laboratory Medicine,2022,0(4):149-153. |
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| Authors: | ZHUANG Nai-bao WU Fan ZHANG Yan-yan LIANG Shuang LIANG Yan-lian SU Yu-qing PENG Long |
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| Affiliation: | Shenzhen Blood Center, Guangdong Shenzhen 518035, China |
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| Abstract: | Objective To study the serological manifestations and RhD gene of an individual and his family with partial agglutination results of RhD blood group identification. Methods ABO and RhD blood groups of the proband were detected by microcolumn gelatin card. RhCcEe phenotypes of the proband and her parents were identified by serological test. Indirect antihuman globulin test (IAT) and flow cytometry were used to detect the RhD antigen of the proband. RHD genotype and RHD zygosity testing of the family were detected by PCR sequence specific primer(PCR-SSP). Also, the full length coding region of RHD gene was sequenced. Results The blood type serological testing of the proband presented as A, RhCcee. RhD blood group testing showed the result with mixed-field agglutination. Flow cytometry showed that the RhD antigenicity of the proband was decreased. RHD genotyping showed that the proband with a RHD c.1212 C ＞ A mutation, which was the characteristic of RHD*weak D type 72. Pedigree investigation showed that the blood type of the proband’s father was O, RhCCDee, and the blood type of the proband’s mother was A, RhCcDee. The genotype of the father was RHD*weak D type 72/RHD+. The mother had a deletion of all the RHD genes on one chromosome, and the genotype of the mother was RHD+/RHD-. The proband inherited RHD*weak D type 72 and RHD-alleles from the father and mother respectively. The genotype of the proband was RHD*weak D type 72/RHD-. Conclusion A case with the genotype of RHD*weak D type 72/RHD-was found. They conclude, as a complementary data, that the RHD*weak D type 72 allele was confirmed descend stably in this family. |
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