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Updated: Aug 27, 2025
Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
Published on: April 4, 2018
[Analysis of an ABO subtype with a novel variation]
Xinming Wu1, Fangyuan Ji, Ni Huo
1Department of Blood Transfusion, the Second People's Hospital of Lianyungang, Lianyungang, Jiangsu 222023, China. 15950736628@163.com.
Objective:
To analyze the molecular characteristics of a ABO subgroup.
Methods:
The ABO phenotype was determined with the tube method. Exons of the ABO gene were analyzed by Sanger sequencing, and haplotypes of exons 6 and 7 were analyzed by cloning sequencing.
Results:
By forward typing, the red blood cells showed 3+ agglutination reaction with anti-A and 4+ agglutination with anti-B. A weak reaction with A1 cells and no agglutination reaction with B, O cells by the reverse typing. Sequencing results showed heterozygosity including c.297A>G, c.467C>T, c.526C>G, c.608A>G, c.657C>T, c.703G>A, c.796C>A, c.803G>C, c.930G>A. Cloning sequencing revealed a c.608A>G variant in the A allele compared with the ABO*A1.02.
Conclusion:
A new variant site of subtype A of c.608G variation has been identified.
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