Abstract

In the present report we describe the laborious identification of the A*02010102L allele found in three healthy individuals of a French family who have shown a reduced A2 antigen expression using serological tests since the 1980s. PCR-SSP typing showed a classical A*0201 allele. Sequencing of exons 2, 3 and 4 confirmed this assignment. Sequencing of the whole gene (promoter, introns and exons 1-8) revealed one single point mutation (T to C) at position -101 in the enhancer B element region compared to the A*02010101 allele. This single mutation appears to be related to the reduced expression of the A2 antigen. This allele segregates with the haplotype Cw*12, B44, DR7, DQ2, which is different to the one described earlier.

Talk to us

Join us for a 30 min session where you can share your feedback and ask us any queries you have

Schedule a call

Disclaimer: All third-party content on this website/platform is and will remain the property of their respective owners and is provided on "as is" basis without any warranties, express or implied. Use of third-party content does not indicate any affiliation, sponsorship with or endorsement by them. Any references to third-party content is to identify the corresponding services and shall be considered fair use under The CopyrightLaw.