title: Fanconi anemia: evidence for linkage heterogeneity on chromosome 20q.
abstract: Fanconi anemia is a rare autosomal recessive disorder in which affected individuals are predisposed to acute myelogenous leukemia and other malignancies. We report the results of a genetic linkage study involving 34 families enrolled in the International Fanconi Anemia Registry. A significant lod score was obtained between D20S20, an anonymous DNA segment from chromosome 20q, and Fanconi anemia (Zmax 3.04, theta max = 0.12). However, six other anonymous DNA segments from chromosome 20q, including D20S19, which is highly polymorphic and tightly linked to D20S20, showed no or only weak evidence for linkage to Fanconi anemia. An admixture test revealed significant evidence for linkage heterogeneity (chi 2 = 6.10, P = 0.01) at the D20S19 locus. Lod scores suggestive of linkage between Fanconi anemia and this locus were obtained with two of the largest kindreds studied (lods = 2.6 and 2.1, at theta = 0.001). Thus, our data support the provisional assignment of a Fanconi anemia gene to chromosome 20q.
authors.affiliation: Laboratory for Investigative Dermatology, Rockefeller University, New York, New York 10021.
authors.forename: W R
authors.initials: WR
authors.lastname: Mann
authors.forename: V S
authors.initials: VS
authors.lastname: Venkatraj
authors.forename: R G
authors.initials: RG
authors.lastname: Allen
authors.forename: Q
authors.initials: Q
authors.lastname: Liu
authors.forename: D A
authors.initials: DA
authors.lastname: Olsen
authors.forename: B
authors.initials: B
authors.lastname: Adler-Brecher
authors.forename: J I
authors.initials: JI
authors.lastname: Mao
authors.forename: B
authors.initials: B
authors.lastname: Weiffenbach
authors.forename: S L
authors.initials: SL
authors.lastname: Sherman
authors.forename: A D
authors.initials: AD
authors.lastname: Auerbach
mesh_terms: D002874:Chromosome Mapping; D002890:Chromosomes, Human, Pair 20; D005199:Fanconi Anemia / Q000235:genetics*; D005260:Female; D008040:Genetic Linkage; D005819:Genetic Markers / Q000235:genetics; D006801:Humans; D008126:Lod Score; D008297:Male; D010375:Pedigree
chemical_list: D005819:Genetic Markers