• MeSH
• chronická lymfatická leukemie genetika   MeSH
• geny pro imunoglobuliny * MeSH
• lidé MeSH
• sekvenční analýza DNA normy   MeSH
• Check Tag
• lidé MeSH
• Publikační typ
• práce podpořená grantem MeSH
• úvodníky MeSH
• Geografické názvy
• Evropa MeSH

Nuext generation sequencing studies in Homo sapiens have identified novel immunoglobulin heavy variable (IGHV) genes and alleles necessitating changes in the international ImMunoGeneTics information system (IMGT) GENE-DB and reference directories of IMGT/V-QUEST. In chronic lymphocytic leukaemia (CLL), the somatic hypermutation (SHM) status of the clonotypic rearranged IGHV gene is strongly associated with patient outcome. Correct determination of this parameter strictly depends on the comparison of the nucleotide sequence of the clonotypic rearranged IGHV gene with that of the closest germline counterpart. Consequently, changes in the reference directories could, in principle, affect the correct interpretation of the IGHV mutational status in CLL. To this end, we analyzed 8066 productive IG heavy chain (IGH) rearrangement sequences from our consortium both before and after the latest update of the IMGT/V-QUEST reference directory. Differences were identified in 405 cases (5 % of the cohort). In 291/405 sequences (71.9 %), changes concerned only the IGHV gene or allele name, whereas a change in the percent germline identity (%GI) was noted in 114/405 (28.1 %) sequences; in 50/114 (43.8 %) sequences, changes in the %GI led to a change in the mutational set. In conclusion, recent changes in the IMGT reference directories affected the interpretation of SHM in a sizeable number of IGH rearrangement sequences from CLL patients. This indicates that both physicians and researchers should consider a re-evaluation of IG sequence data, especially for those IGH rearrangement sequences that, up to date, have a GI close to 98 %, where caution is warranted.

• MeSH
• alely MeSH
• chronická lymfatická leukemie * genetika   imunologie   patologie   MeSH
• hypervariabilní oblasti * genetika   MeSH
• lidé MeSH
• mutace MeSH
• prognóza * MeSH
• sekvence aminokyselin genetika   MeSH
• sekvenční seřazení MeSH
• Check Tag
• lidé MeSH

• MeSH
• B-lymfocyty cytologie   imunologie   MeSH
• lidé MeSH
• molekulární sekvence - údaje MeSH
• receptory antigenů chemie   imunologie   MeSH
• revmatoidní faktor * metabolismus   MeSH
• sekvence aminokyselin MeSH
• variabilní oblast imunoglobulinu * MeSH
• Check Tag
• lidé MeSH
• Publikační typ
• dopisy MeSH
• práce podpořená grantem MeSH