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• W2889073370 abstract "Sanger sequencing-based typing (SBT, Life Technologies), and LABType Sequence specific oligonucleotide (SSO) Typing (One Lambda) are performed on all bone marrow/stem cell transplant recipients and prospective donors at Mayo Clinic, Rochester. SSO performed on an 11 yr-old African American male with Hemophagocytic Lymphohistiocytosis needing a stem cell transplant and his full-sibling donor, resulted in C*04/C*07 with group 1 results showing common allele possibilities. SBT of exons 2, 3, and 4 resulted in either a rare C*04 allele, a rare C*07 allele, or both C*04 and C*07 being rare alleles. (Fig. 1a). At base pair 862 in exon 4, a heterozygous A/G result was seen. At this base the G result was consistent with a C*07:18 while the A suggested C*04:165. (Fig. 1b). This nucleotide exchange from G → A in codon 264 resulted in an amino acid change from Glutamic Acid to Lysine GAG → AAG. Ambisolv Sequence Specific Primers (SSP, One Lambda) were performed to help differentiate the common alleles C*04:09 N, C*04:82, C*07:01, C*07:06, and C*07:18. Except for the C*07:18, all were negative and led to an initial interpretation of C*04:165 and C*07:18. Olerup C*04 and C*07 SSP trays were set up with C*04:01/C*07:18 results obtained. Included in the C*04 SSP tray was C*04:165 with negative results. To further confirm the presence of C*07:18, exons 5 and 6 were sequenced by SBT where results at position 1043 showed a T/C. (Fig. 1b). After SSO typing a maternal half-sibling showing a haplotype match at class I, SBT was performed showing a C*04:01 homozygous result. (Fig. 1c). To help resolve the typing, Next Generation Sequencing (NGS) using Omixon Holotype HLA was performed. This led to a conclusion of C*04:01/C*07:18 novel allele (Fig. 1d). The allele has been newly discovered and named C*07:607 in the IPD-IMGT/HLA Database. It was originally found in a Black East African female. NGS phasing proved extremely valuable in identifying the nucleotide change from G→A at position 862 (codon 264) belonging to the C*07 and not the C*04." @default.
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• W2889073370 date "2018-10-01" @default.
• W2889073370 modified "2023-10-14" @default.
• W2889073370 title "P013 Steps leading to discovery of a rare allele" @default.
• W2889073370 doi "https://doi.org/10.1016/j.humimm.2018.07.071" @default.
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