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| CLASSIFICATION OF FANCONI-ANEMIA PATIENTS BY COMPLEMENTATION ANALYSIS - EVIDENCE FOR A 5TH GENETIC SUBTYPE |
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| Author(s): JOENJE H, LO TEN FOE JR, OOSTRA AB, VANBERKEL CGN, ROOIMANS MA, SCHROEDERKURTH T, WEGNER RD, GILLE JJP, BUCHWALD M, ARWERT F |
| Source: BLOOD Volume: 86 Issue: 6 Pages: 2156-2160 Published: SEP 15 1995 |
| Times Cited: 152 References: 13 |
| Abstract: 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 (FA-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. (C) 1995 by The American Society of Hematology. |
| Document Type: Article |
| Language: English |
| Reprint Address: JOENJE, H (reprint author), FREE UNIV AMSTERDAM, DEPT HUMAN GENET, VAN DER BOECHORSTSTR 7, 1081 BT AMSTERDAM, NETHERLANDS |
Addresses:
1. UNIV HEIDELBERG, INST HUMAN GENET & ANTHROPOL, W-6900 HEIDELBERG, GERMANY
2. FREE UNIV BERLIN, INST HUMAN GENET, W-1000 BERLIN, GERMANY
3. FREE UNIV AMSTERDAM HOSP, DEPT ONCOL, AMSTERDAM, NETHERLANDS
4. HOSP SICK CHILDREN, RES INST, TORONTO, ON M5G 1X8 CANADA
5. UNIV TORONTO, DEPT MOLEC & MED GENET, TORONTO, ON CANADA |
| Publisher: W B SAUNDERS CO, INDEPENDENCE SQUARE WEST CURTIS CENTER, STE 300, PHILADELPHIA, PA 19106-3399 |
| Subject Category: Hematology |
| IDS Number: RU052 |
| ISSN: 0006-4971 |
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