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Blood, 1 April 2001, Vol. 97, No. 7, pp. 2145-2150
RED CELLS
Evidence for linkage of familial Diamond-Blackfan anemia to
chromosome 8p23.3-p22 and for non-19q non-8p disease
Hanna Gazda,
Jeffrey M. Lipton,
Thiébaut-Noël Willig,
Sarah Ball,
Charlotte M. Niemeyer,
Gil Tchernia,
Narla Mohandas,
Mark J. Daly,
Anna Ploszynska,
Karen A. Orfali,
Adrianna Vlachos,
Bertil E. Glader,
Roma Rokicka-Milewska,
Akira Ohara,
David Baker,
Dagmar Pospisilova,
Allison Webber,
David H. Viskochil,
David G. Nathan,
Alan H. Beggs, and
Colin A. Sieff
From the Division of Pediatric Hematology and Oncology,
Dana Farber Cancer Institute and Children's Hospital, Division of
Genetics, Children's Hospital and Department of Pediatrics, Harvard
Medical School, Boston, Massachusetts; Division of Pediatric
Hematology/Oncology, Mount Sinai School of Medicine, New York, New
York; Department of Hematology, Hôpital Bicêtre, Assitance
Publique-Hôpitaux de Paris et Faculte de Médicine, Paris,
France; Lawrence Berkeley National Laboratory, Berkeley, California;
Department of Haematology, St. George's Hospital Medical School,
London, England; Children's Hospital, University of Freiburg, Germany;
Whitehead Institute for Biomedical Research, Massachusetts Institute of
Technology, Cambridge, Massachusetts; Department of Pediatric
Hematology and Oncology, University of Gdansk, Poland; Division of
Pediatric Hematology/Oncology, Stanford University School of Medicine,
Stanford, California; Department of Pediatric Hematology/Oncology,
Warsaw School of Medicine, Warsaw, Poland; Department of Pediatrics,
Toho University School of Medicine, Tokyo, Japan; Department of
Pediatric Haematology/Oncology, Princess Margaret Hospital for
Children, Perth, Australia; Department of Pediatrics, University
Hospital, Olomouc, Czech Republic; Division of Medical Genetics,
University of Utah School of Medicine, Salt Lake City, UT.
Diamond-Blackfan anemia (DBA) is a rare congenital hypoplastic
anemia that usually presents early in infancy and is inherited in 10%
to 20% of cases. Linkage analysis has shown that DBA in many of both
dominant and recessive DBA families mapped to chromosome 19q13.2
leading to the cloning of a gene on chromosome 19q13.2 that encodes a
ribosomal protein, RPS19. However, subsequently, mutations of the
RPS19 gene have only been identified in 25% of all
patients with DBA. This study analyzed 14 multiplex DBA families, 9 of
which had 19q13.2 haplotypes inconsistent with 19q linkage. A
genome-wide search for linked loci suggested the presence of a second
DBA locus in a 26.4-centimorgan (cM) interval on human chromosome 8p.
Subsequently, 24 additional DBA families were ascertained and all 38 families were analyzed with additional polymorphic markers on
chromosome 8p. In total, 18 of 38 families were consistent with linkage
to chromosome 8p with a maximal LOD score with heterogeneity of 3.55 at
D8S277 assuming 90% penetrance. The results indicate the existence of
a second DBA gene in the 26.4-cM telomeric region of human
chromosome 8p23.3-p22, most likely within an 8.1-cM interval flanked by
D8S518 and D8S1825. Seven families were inconsistent with linkage to 8p
or 19q and did not reveal mutations in the RPS19 gene,
suggesting further genetic heterogeneity.
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