Premium
Whole exome sequencing to estimate alloreactivity potential between donors and recipients in stem cell transplantation
Author(s) -
Sampson Juliana K.,
Sheth Nihar U.,
Koparde Vishal N.,
Scalora Allison F.,
Serrano Myrna G.,
Lee Vladimir,
Roberts Catherine H.,
JamesonLee Max,
FerreiraGonzalez Andrea,
Manjili Masoud H.,
Buck Gregory A.,
Neale Michael C.,
Toor Amir A.
Publication year - 2014
Publication title -
british journal of haematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.907
H-Index - 186
eISSN - 1365-2141
pISSN - 0007-1048
DOI - 10.1111/bjh.12898
Subject(s) - nonsynonymous substitution , exome sequencing , human leukocyte antigen , exome , biology , genetics , transplantation , histocompatibility testing , immunology , mutation , antigen , gene , medicine , genome
Summary Whole exome sequencing ( WES ) was performed on stem cell transplant donor‐recipient ( D ‐ R ) pairs to determine the extent of potential antigenic variation at a molecular level. In a small cohort of D ‐ R pairs, a high frequency of sequence variation was observed between the donor and recipient exomes independent of human leucocyte antigen ( HLA ) matching. Nonsynonymous, nonconservative single nucleotide polymorphisms were approximately twice as frequent in HLA ‐matched unrelated, compared with related D ‐ R pairs. When mapped to individual chromosomes, these polymorphic nucleotides were uniformly distributed across the entire exome. In conclusion, WES reveals extensive nucleotide sequence variation in the exomes of HLA ‐matched donors and recipients.