| 类孟买表型
FUT1新等位基因的鉴定及家系研究 |
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| 引用本文： | 李强,项凯华,刘春华,邓刚,倪列芳,华妍洁,俞石芳.类孟买表型
FUT1新等位基因的鉴定及家系研究[J].中华医学遗传学杂志,2022(1):89-93. |
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| 作者姓名： | 李强 项凯华 刘春华 邓刚 倪列芳 华妍洁 俞石芳 |
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| 作者单位： | 浙江省中医院;浙江大学医学院附属第二医院;宁波市中心血站 |
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| 基金项目： | 浙江省自然科学基金(LY17H200001,LY20H290006)。 |
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| 摘 要： | 目的:报告1例类孟买血型并探讨其分子机制。方法:对1例ABO血型常规检测正反定型不相符的就诊者，采用吸收放散试验检测红细胞弱表达的ABH血型抗原，唾液酸实验检测唾液中血型物质。采用PCR产物直接测序法进行
ABO基因第6、7外显子和
FUT1和
FUT2基因序列分析。
结果...
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| 关 键 词： | 类孟买血型 血型血清学 基因测序 FUT1基因 |
Identification of a novel FUT1 allele in a Chinese individual featuring para-Bombay phenotype |
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| Li Qiang,Xiang Kaihua,Liu Chunhua,Deng Gang,Ni Liefang,Hua Yanjie,Yu Shifang.Identification of a novel FUT1 allele in a Chinese individual featuring para-Bombay phenotype[J].Chinese Journal of Medical Genetics,2022(1):89-93. |
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| Authors: | Li Qiang Xiang Kaihua Liu Chunhua Deng Gang Ni Liefang Hua Yanjie Yu Shifang |
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| Institution: | (Zhejiang Provincial Hospital of Traditional Chinese Medicine,Hangzhou,Zhejiang 310003,China;The Second Affiliated Hospital of Medical College of Zhejiang University,Hangzhou,Zhejiang 310003,China;Ningbo Central Blood Station,Ningbo,Zhejiang 315099,China) |
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| Abstract: | Objective To explore the genetic basis for an individual with a para-Bombay phenotype.Methods A proband with mismatched forward and reverse serotypes for the ABO blood group was identified.Weakly expressed ABH blood type antigen on the surface of red blood cells was verified by absorption and release test,and the blood group substances in saliva was detected by sialic acid test.Exons 6 and 7 of the ABO gene and exons of the FUT1 and FUT2 genes were subjected to direct sequencing.Results The proband was found to be of O type by forward ABO serotyping and AB type by reverse ABO serotyping,though H and substance A and B were detected in her saliva.DNA sequencing revealed that she has harbored c.35C/T,c.328G/A,and c.504delC compound heterozygous variants of the FUT1 gene.Haploid analysis showed that her FUT1 genotype was h328A/h35T+504delC,which has been uploaded to the NCBI website(No.MW323551).Conclusion The para-Bombay phenotype of the proband may be attributed to the novel compound heterozygous variants including c.504delC of the FUT1 gene,which may affect its function by altering the activity of FUT1 glycotransferase. |
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| Keywords: | Para-Bombay phenotype Blood type serology Gene sequencing FUT1 gene |
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