Clinical Genetics
Identification of a novel FUT1 allele in a Chinese individual featuring para-Bombay phenotype
Li Qiang, Xiang Kaihua, Liu Chunhua, Deng Gang, Ni Liefang, Hua Yanjie, Yu Shifang
Published 2022-01-10
Cite as Chin J Med Genet, 2022, 39(1): 89-93. DOI: 10.3760/cma.j.cn511374-20210202-00108
Abstract
ObjectiveTo explore the genetic basis for an individual with a para-Bombay phenotype.
MethodsA 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.
ResultsThe 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).
ConclusionThe 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.
Key words:
Para-Bombay phenotype; Blood type serology; Gene sequencing; FUT1 gene
Contributor Information
Li Qiang
Zhejiang Provincial Hospital of Traditional Chinese Medicine, Hangzhou, Zhejiang 310003, China
Xiang Kaihua
The Second Affiliated Hospital of Medical College of Zhejiang University, Hangzhou, Zhejiang 310003, China
Liu Chunhua
The Second Affiliated Hospital of Medical College of Zhejiang University, Hangzhou, Zhejiang 310003, China
Deng Gang
Ningbo Central Blood Station, Ningbo, Zhejiang 315099, China
Ni Liefang
The Second Affiliated Hospital of Medical College of Zhejiang University, Hangzhou, Zhejiang 310003, China
Hua Yanjie
Zhejiang Provincial Hospital of Traditional Chinese Medicine, Hangzhou, Zhejiang 310003, China
Yu Shifang
The Second Affiliated Hospital of Medical College of Zhejiang University, Hangzhou, Zhejiang 310003, China
