PMID- 10205272
OWN - NLM
STAT- MEDLINE
DCOM- 19990520
LR  - 20181113
IS  - 0002-9297 (Print)
IS  - 0002-9297 (Linking)
VI  - 64
IP  - 5
DP  - 1999 May
TI  - The Fanconi anemia group E gene, FANCE, maps to chromosome 6p.
PG  - 1400-5
AB  - Fanconi anemia (FA) is a genetically heterogeneous autosomal recessive disease
      with bone marrow failure and predisposition to cancer as major features, often
      accompanied by developmental anomalies. The cells of patients with FA are
      hypersensitive to DNA cross-linking agents in terms of cell survival and
      chromosomal breakage. Of the eight complementation groups (FA-A to FA-H)
      distinguished thus far by cell fusion studies, the genes for three-FANCA, FANCC, 
      and FANCG-have been identified, and the FANCD gene has been localized to
      chromosome 3p22-26. We report here the use of homozygosity mapping and genetic
      linkage analysis to map a fifth distinct genetic locus for FA. DNA from three
      families was assigned to group FA-E by cell fusion and complementation analysis
      and was then used to localize the FANCE gene to chromosome 6p21-22 in an 18.2-cM 
      region flanked by markers D6S422 and D6S1610. This study shows that data from
      even a small number of families can be successfully used to map a gene for a
      genetically heterogeneous disorder.
FAU - Waisfisz, Q
AU  - Waisfisz Q
AD  - Departments of Human Genetics, Free University, Amsterdam, Netherlands.
FAU - Saar, K
AU  - Saar K
FAU - Morgan, N V
AU  - Morgan NV
FAU - Altay, C
AU  - Altay C
FAU - Leegwater, P A
AU  - Leegwater PA
FAU - de Winter, J P
AU  - de Winter JP
FAU - Komatsu, K
AU  - Komatsu K
FAU - Evans, G R
AU  - Evans GR
FAU - Wegner, R D
AU  - Wegner RD
FAU - Reis, A
AU  - Reis A
FAU - Joenje, H
AU  - Joenje H
FAU - Arwert, F
AU  - Arwert F
FAU - Mathew, C G
AU  - Mathew CG
FAU - Pronk, J C
AU  - Pronk JC
FAU - Digweed, M
AU  - Digweed M
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - United States
TA  - Am J Hum Genet
JT  - American journal of human genetics
JID - 0370475
RN  - 0 (Genetic Markers)
SB  - IM
MH  - Cell Fusion
MH  - *Chromosome Mapping
MH  - Chromosomes, Human, Pair 6/*genetics
MH  - Fanconi Anemia/*genetics
MH  - Female
MH  - Genetic Complementation Test/methods
MH  - Genetic Markers/genetics
MH  - Humans
MH  - Male
PMC - PMC1377877
EDAT- 1999/04/17 02:14
MHDA- 2000/03/21 09:00
CRDT- 1999/04/17 02:14
PHST- 1999/04/17 02:14 [pubmed]
PHST- 2000/03/21 09:00 [medline]
PHST- 1999/04/17 02:14 [entrez]
AID - S0002-9297(07)62286-1 [pii]
AID - 10.1086/302385 [doi]
PST - ppublish
SO  - Am J Hum Genet. 1999 May;64(5):1400-5. doi: 10.1086/302385.