血清学联合基因检测鉴定罕见类孟买A^(h)_(m)1例  

Identification of a rare Bombay rare-Bombay A^(h)_(m)by serologic combined with genetic testing

作　　者：倪修文[1] 屠佳燕 洪小珍[2] 许先国[2] 孙佳怡 吴瑾惠 NI Xiu-wen;TU Jia-yan;HONG Xiao-zhen;XU Xian-guo;SUN Jia-yi;WU Jin-hui(Laboratory Department,Jiaxing Blood Center,Jiaxing,Zhejiang 314000,China;不详)

机构地区：[1]嘉兴市中心血站检验科,浙江嘉兴314000 [2]浙江省血液中心浙江省血液安全研究重点实验室,浙江杭州310000

出　　处：《中国卫生检验杂志》2021年第11期1326-1328,共3页Chinese Journal of Health Laboratory Technology

基　　金：国家卫生健康委科研基金(WKJ-ZJ-2021);浙江省卫生创新人才项目和省公益技术项目(LGF19H08-0004)。

摘　　要：目的分析研究类孟买血型血清学特征及相关分子生物学机制。方法采用常规血型血清学进行红细胞抗原及血清中抗体的检测,用吸收放散试验鉴定红细胞上弱表达的ABH抗原,用中和抑制试验检测唾液中血型物质,并对α-1,2岩藻糖基转移酶(FUT1)基因进行测序分析。结果该患者红细胞上常规血清学方法未检测到ABH抗原,吸收放散试验检出A抗原,血清中检出抗-H,Lewis血型为Le(a-b+),唾液中检出A、H物质,基因测序发现FUT1基因c.328G>A纯合突变(基因型FUT1*01W.02/01W.02),导致第110位氨基酸Ala转变为Thr。结论血清学联合基因检测可以正确鉴定罕见类孟买血型。Objective To analyze and study the serological characteristics and molecular-biological mechanism of paraBombay blood group.Methods Red Blood Cell Antigen(RBC)and antibody in serum were detected with conventional serologic methods.ABH Antigen in red blood cells weakly expressed was identified by absorption and elution test.The full coding region of alpha-1,2 fucosyltransferase gene(FUT1)was amplified by polymerase chain reaction(PCR).The PCR product was purified with enzymes digestion and directly sequenced analysis.Results ABH antigen on the red blood cells of this patient was not detected by routine serological methods,while A antigen was detected by absorption and elution test.Anti-H was identified in the serum.Lewis blood type was Le(a-b+).Substances A and H were detected in saliva.Gene sequencing revealed a homozygous mutation of FUT1 Gene c.328 G>A(genotype FUT1*01 W.02/01 W.02),resulting in the conversion of the 110th amino acid Ala to Thr.Conclusion The combination of serology and gene detection can correctly identify the rare para-Bombay blood group.

关 键 词：类孟买血型 FUT1基因 血清学鉴定 基因检测 

分 类 号：R446[医药卫生—诊断学]