Abstract:
BACKGROUND AND OBJECTIVES:The ABO blood group system is the most important blood group system in transfusion medicine. In addition to the major A, B and O alleles, many rare alleles have been defined. Polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) and analysis by PCR sequence specific primers (SSP) are commonly conducted for genotyping but have the limitation of being unable to detect unknown substitution(s) in amplified DNA fragments, whereas PCR-single strand conformation polymorphism (SSCP) can be used for both. MATERIALS AND METHODS:Three-hundred unrelated blood donors of the AB phenotype were enrolled. Four pairs of primers were designed to constitute two sets of multiplex PCRs: this amplifies four fragments spanning the entire exon 6 and its immediate flanking regions, nucleotides 432-1065, as well as the 3' untranslated region of exon 7 of the ABO gene. The SSCP electrophoresis was carried out on a 12.5% polyacrylamide gel in a GenePhor electrophoresis unit. For those with unexpected banding patterns, SSCP analyses were performed in duplicate and samples were cloned and sequenced for exons 6 and 7. RESULTS:Seven samples were noted to have six variant alleles, of which five have not been previously reported in the literature. Of these five novel variants, four were derived from the B allele, while the other derived from the A allele. CONCLUSIONS:By using PCR-SSCP, five novel A/B alleles were found.
journal_name
Vox Sangjournal_title
Vox sanguinisauthors
Chen YJ,Chen PS,Liu HM,Lyou JY,Hu HY,Lin JS,Tzeng CHdoi
10.1111/j.1423-0410.2005.00729.xsubject
Has Abstractpub_date
2006-02-01 00:00:00pages
119-27issue
2eissn
0042-9007issn
1423-0410pii
VOX729journal_volume
90pub_type
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