TY - JOUR
T1 - Classification of Fanconi anemia patients by complementation analysis
T2 - Evidence for a fifth genetic subtype
AU - Joenje, Hans
AU - Lo Ten Foe, Jerome R.
AU - Oostra, Anneke B.
AU - Van Berkel, Carola G.M.
AU - Rooimans, Martin A.
AU - Schroeder-Kurth, Traute
AU - Wegner, Rolf Dieter
AU - Gille, Johan J.P.
AU - Buchwald, Manuel
AU - Arwert, Fré
PY - 1995/9/15
Y1 - 1995/9/15
N2 - Fanconi anemia (FA) is an autosomal recessive disease with diverse clinical symptoms, life-threatening progressive panmyelopathy, and cellular hypersensitivity to cross-linking agents. Currently, 4 genetic subtypes or complementation groups IFA-A through FA-D) have been distinguished among 7 unrelated FA patients. We report the use of genetically marked FA lymphoblastoid cell lines representing each of the 4 presently known complementation groups to classify 13 unrelated FA patients through cell fusion and complementation analysis. Twelve cell lines failed to complement cross-linker sensitivity in fusion hybrids with only 1 of the 4 reference cell lines and could thus be unambiguously classified as FA-A (7 patients), FA-C (4 patients), or FA-D (1 patient). One cell line complemented all 4 reference cell lines and therefore represents a new complementation group, designated FA-E. These results imply that at least 5 genes appear to be involved in a pathway that, when defective, causes bone marrow failure in FA patients.
AB - Fanconi anemia (FA) is an autosomal recessive disease with diverse clinical symptoms, life-threatening progressive panmyelopathy, and cellular hypersensitivity to cross-linking agents. Currently, 4 genetic subtypes or complementation groups IFA-A through FA-D) have been distinguished among 7 unrelated FA patients. We report the use of genetically marked FA lymphoblastoid cell lines representing each of the 4 presently known complementation groups to classify 13 unrelated FA patients through cell fusion and complementation analysis. Twelve cell lines failed to complement cross-linker sensitivity in fusion hybrids with only 1 of the 4 reference cell lines and could thus be unambiguously classified as FA-A (7 patients), FA-C (4 patients), or FA-D (1 patient). One cell line complemented all 4 reference cell lines and therefore represents a new complementation group, designated FA-E. These results imply that at least 5 genes appear to be involved in a pathway that, when defective, causes bone marrow failure in FA patients.
UR - http://www.scopus.com/inward/record.url?scp=0029163523&partnerID=8YFLogxK
U2 - 10.1182/blood.v86.6.2156.bloodjournal8662156
DO - 10.1182/blood.v86.6.2156.bloodjournal8662156
M3 - Article
C2 - 7662964
AN - SCOPUS:0029163523
SN - 0006-4971
VL - 86
SP - 2156
EP - 2160
JO - Blood
JF - Blood
IS - 6
ER -