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常州地区RHD变异型基因分型及特征分析

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文章导航 > 临床血液学杂志 > 2022 > 35(10): 739-743
杨红梅, 邹昕, 虞茜, 等. 常州地区RHD变异型基因分型及特征分析[J]. 临床血液学杂志, 2022, 35(10): 739-743. doi: 10.13201/j.issn.1004-2806.2022.10.011
引用本文: 杨红梅, 邹昕, 虞茜, 等. 常州地区RHD变异型基因分型及特征分析[J]. 临床血液学杂志, 2022, 35(10): 739-743. doi: 10.13201/j.issn.1004-2806.2022.10.011
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YANG Hongmei, ZOU Xin, YU Xi, et al. Genotyping and phenotyping in RHD varaints of Changzhou[J]. J Clin Hematol, 2022, 35(10): 739-743. doi: 10.13201/j.issn.1004-2806.2022.10.011
Citation: YANG Hongmei, ZOU Xin, YU Xi, et al. Genotyping and phenotyping in RHD varaints of Changzhou[J]. J Clin Hematol, 2022, 35(10): 739-743. doi: 10.13201/j.issn.1004-2806.2022.10.011
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常州地区RHD变异型基因分型及特征分析

    • 1.

      常州市中心血站(江苏常州，213000)

    • 2.

      常州市临床输血重点专科实验室

  • 基金项目:
    江苏省英科新创科研基金课题(No：JS2020001)；常州市卫健委青年项目(No：QN202133)
详细信息
    通讯作者: 徐立, E-mail：xulion@126.com

  • 中图分类号: R457.1

Genotyping and phenotyping in RHD varaints of Changzhou

    • 1.

      Changzhou Blood Center, Changzhou, 213000, China

    • 2.

      Changzhou Key Laboratory of Clinical Blood Transfusion

More Information

    摘要
  • 目的 研究常州地区献血人群中RHD变异型基因型及表型特征。方法 收集41例常州地区献血者RHD变异型样本，对其进行RHD血清学鉴定、不规则抗体筛查、RhCcEe表型测定及PCR-SSP方法分型RHD基因，必要时对RHD基因10个外显子进行测序。结果 41例血清学RHD变异型基因多态性以RHD*weak partial 15、RHD*DVI.3及RHD*DEL1为主，其中RHD*weak partial 15约占34.1%(14/41)、RHD*DVI.3约占29.3%(12/41)、RHD*DEL1约占17.1%(7/41)，基本符合中国人群分布特征。另外发现RHD*weak partial 15/RHD*DEL1杂合1例、单核苷酸突变的RHD变异型3例，突变位点分别为692 C>T、467 T>A和254 C>T，均未被ISBT数据库收录。结论 RHD*weak partial 15为本地区最常见的RHD变异型，其常见表型为ccEe(64.3%)。RHD变异型在常州地区具有丰富的基因多态性，并存在稀有基因型，这些新的基因型位点核苷酸突变为RHD变异型发生机制研究提供样本来源，为RHD变异型精准输血提供基础。
    Objective To study the genotype and phenotypic characteristics of RHD variant in Changzhou blood donors.Methods RHD serological identification, irregular antibody screening and RhCcEe antigen typing were performed on 41 blood donors by test tube and microcolumn agglutination. The 10 exons of RHD gene were classified by PCR-SSP, the 10 exons of RHD gene were sequenced in parts samples.Results The 41 serological polymorphisms of RHD variants were mainly RHD*weak partial 15, RHD*DVI. 3and RHD*DEL1. RHD*Weak partial 15accounted for 34.1%(14/41), RHD*DVI. 3 accounted for 29.3%(12/41) and RHD*DEL1for 17.1%(7/41), which basically matched the distribution characteristics of Chinese population. In addition, there was 1 case of RHD*weak partial 15/ RHD*DEL 1heterozygous, 1 case of T>A homozygous mutation of base 467 on exon 3, 1 case of C>T mutation of base 692 on exon 5 and 1 case of C>T mutation of base 254 on exon 2. The latter two mutations were not included in ISBT database.Conclusion The gene structure of RHD variants in Changzhou was polymorphic, also rare genotypes. The nucleotide mutations of these new genotypes may provide samples for further research on the mechanism of RHD variants, and provide a basis for accurate blood transfusion of RHD variants in China.
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  • 图 1  RHD10个外显子测序结果

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    表 1  694例初筛为RH阴性样本与抗-D试剂在3种介质中血清学检测结果

    RhCcEe表型 例数 IS AHG Poly
    ccee 313 - - -
    Ccee 244 - - -
    10 - 1+~3+ 1+
    CCee 48 - - -
    8 - 1+~3+ -
    CcEe 17 - - -
    11 - 1+~3+ -
    ccEe 29 - - -
    12 - 1+~3+ -
    ccEE 2 - - -
    IS：盐水介质立即离心；AHG：抗球蛋白介质；Poly：凝聚胺介质。
    下载: 导出CSV

    表 2  41例RHD变异型血清学、表型及基因型检测结果

    编号 抗-D试剂血清学结果 RH表型 RHD杂合型 RHD基因型
    试剂1
    IgM/IgG    		 试剂2
    IgM/IgG    		 试剂3
    IgG
    1 -/1+ -/2+ 1+w CcEe RHD+/ RHD- RHD*DEL1
    2 -/2+ -/2+ 1+ CcEe RHD+/ RHD+ RHD*weak partial 15/ RHD*DEL1
    3 -/1+ -/3+ 3+ Ccee RHD+/ RHD- RHD*DEL1
    4 -/3+ -/3+ 3+ ccEe RHD+/ RHD- RHD*weak partial 15
    5 -/2+ -/1+ 2+ Ccee RHD+/ RHD- RHD*DEL1
    6 -/3+ -/1+ 3+ CcEe RHD+/ RHD- RHD*DVI.3
    7 -/3+ -/2+ 3+ Ccee RHD+/ RHD- RHD*DVI.3
    8 1+w/4+ -/4+ 4+ Ccee RHD+/ RHD- RHD*DVI.3
    9 -/2+ -/2+ 2+ Ccee RHD+/ RHD- c.467T>A(未收录)
    10 -/2+ -/1+ 2+ ccEe RHD+/ RHD- RHD*weak partial 15
    11 -/1+ -/1+ 1+w CCee RHD+/ RHD- RHD*DEL1
    12 -/2+ -/2+ 2+ ccEe RHD+/ RHD- RHD*weak partial 15
    13 1+w/3+ 1+/4+ 3+ CCee RHD+/ RHD- RHD*weak partial 17
    14 -/2+ -/2+ 2+ CCee RHD+/ RHD- c.692C>T(未收录)
    15 1+w/3+ 1+w/3+s 3+ ccEe RHD+/ RHD- RHD*weak partial 15
    16 -/3+ -/3+ 3+ CcEe RHD+/ RHD- RHD*weak D type 17
    17 -/2+s -/3+ 3+ CcEe RHD+/ RHD- RHD*DEL1
    18 -/2+s -/2+ 1+w CCee RHD+/ RHD- RHD*weak partial 15
    19 -/1+s -/2+ 1+w ccEe RHD+/ RHD- RHD*weak partial 15
    20 -/1+s -/2+ 1+w ccEe RHD+/ RHD- RHD*weak partial 15
    21 -/2+ -/2+ 1+w CcEe RHD+/ RHD- c.254C>T(未收录)
    22 -/2+ -/2+ 1+ CcEe RHD+/ RHD- RHD*weak partial 15
    23 -/3+ -/3+ 3+ Ccee RHD+/ RHD- RHD*DVI.3
    24 -/3+ -/3+ 3+ ccEe RHD+/ RHD- RHD*DCS2
    25 1+/4+ 1+/4+ 4+ Ccee RHD+/ RHD- RHD*DVI.3
    26 -/3+ -/1+ 3+ CcEe RHD+/ RHD- RHD*weak partial 15
    27 -/4+ -/4+ 4+ Ccee RHD+/ RHD- RHD*DVI.3
    28 1+w/4+ -/4+ 4+ Ccee RHD+/ RHD- RHD*weak partial 15
    29 -/2+ -/2+ 2+ Ccee RHD+/ RHD- RHD*DCS2
    30 -/2+ -/1+ 2+ ccEe RHD+/ RHD- RHD*weak partial 15
    31 -/1+s -/1+ 1+ CCee RHD+/ RHD- RHD*DEL1
    32 -/2+ -/2+ 2+ CCee RHD+/ RHD- RHD*DVI.3
    33 1+/4+ 1+/4+ 3+ ccEe RHD+/ RHD- RHD*DVI.3
    34 -/2+ -/2+ 2+ CCee RHD+/ RHD- RHD*DEL1
    35 1+w/2+ 1+w/2+s 3+ ccEe RHD+/ RHD- RHD*DVI.3
    36 -/3+ -/3+ 3+ CCee RHD+/ RHD- RHD*DVI.3
    37 -/2+ -/3+ 3+ CcEe RHD+/ RHD- RHD*DVI.3
    38 -/2+ -/2+ 1+w CcEe RHD+/ RHD- RHD*weak partial 15
    39 -/2+ -/2+ 1+w ccEe RHD+/ RHD- RHD*weak partial 15
    40 -/2+ -/2+ 1+w ccEe RHD+/ RHD- RHD*weak partial 15
    41 1+/4+ 1+/4+ 3+ CcEe RHD+/ RHD- RHD*DVI.3
    试剂1：加拿大Dominion抗-D(IgM/IgG)抗体；试剂2：英国Millipore抗-D(IgM/IgG)抗体；试剂3：德国CE抗-D单克隆IgG抗体。
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    • 参考文献(12)
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出版历程
收稿日期:  2022-03-03
修回日期:  2022-05-07
刊出日期:  2022-10-01

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