Ann Lab Med.  2016 Nov;36(6):620-622. 10.3343/alm.2016.36.6.620.

Identification of the ABO*cis-AB04 Allele With a Unique Substitution C796A: The First Case in Korea

• Yoon J
• Youk HJ
• Chang JH
• Jang MA
• Choi JH
• Nam MH
• Choi JS
• Lim CS

• KMID: 2373606
• DOI: http://doi.org/10.3343/alm.2016.36.6.620

Abstract

No abstract available.

MeSH Terms

ABO Blood-Group System/*genetics
Alleles
Asian Continental Ancestry Group/*genetics
Base Sequence
DNA/chemistry/isolation & purification/metabolism
Female
Genotype
Humans
Middle Aged
Pedigree
Polymerase Chain Reaction
Polymorphism, Single Nucleotide
Republic of Korea
Sequence Analysis, DNA
ABO Blood-Group System
DNA

Figure

• 

  Fig. 1 Pedigree of the proband's family, showing inheritance of allele cis-AB04. The ABO blood group phenotype and genotype of each person are shown. The filled circle with the arrow indicates the proband.

• 

  Fig. 2 Sequence analysis at and around nucleotide (nt) 796 of exon 7 of allele cis-AB04.

Reference

1. Yazer MH, Olsson ML, Palcic MM. The cis-AB blood group phenotype: fundamental lessons in glycobiology. Transfus Med Rev. 2006; 20:207–217. PMID: 16787828.

2. Cho D, Kim SH, Jeon MJ, Choi KL, Kee SJ, Shin MG, et al. The serological and genetic basis of the cis-AB blood group in Korea. Vox Sang. 2004; 87:41–43. PMID: 15260821.

3. Lee SY, Phan MT, Shin DJ, Shin MG, Park JT, Shin JW, et al. A novel cis-AB variant allele arising from a de novo nucleotide substitution c.796A>G (p.M266V) in the B glycosyltransferase gene. Transfus Med. 2015; 25:333–336. PMID: 26197879.

4. Fukumori Y, Ohnoki S, Yoshimura K, Nagao N, Shibata H, Tomita T, et al. Rapid detection of the cisAB allele consisting of a chimera of normal A and B alleles by PCR-RFLPs. Transfus Med. 1996; 6:337–344. PMID: 8981729.

5. Seo DH, Lee CY, Kim DW, Kim SI. ABO gene analysis of cis-AB and B subgroup in blood donors. Korean J Blood Transfus. 2000; 11:27–34.

6. Seo DH, Kim SY, Kim JY, Park KU, Kang SH, Park SS, et al. Molecular characteristics of A subgroups in Koreans. Korean J Blood Transfus. 2003; 14:212–222.

7. Tzeng CH, Chen YJ, Lyou JY, Chen PS, Liu HM, Hu HY, et al. A novel cis-AB allele derived from a unique 796C>A mutation in exon 7 of ABO gene. Transfusion. 2005; 45:50–55. PMID: 15647018.

8. Chen DP, Tseng CP, Wang WT, Wang MC, Tsao KC, Wu TL, et al. A novel cis-AB allele derived from the A transferase gene by nucleotide substitution C796A. Ann Clin Lab Sci. 2004; 34:437–442. PMID: 15648786.