Mutations of the Fanconi anemia group A gene (FAA) in Italian patients

American Journal of Human Genetics

Volumn 61, Issue 6, 1997, Pages 1246-1253

  Savino, Maria ^a   Ianzano, Leonarda ^a   Strippoli, Pierluigi ^b   Ramenghi, Ugo ^c   Arslanian, Araxy ^d   Bagnara, Gian Paolo ^b   Joenje, Hans ^e   Zelante, Leopoldo ^a   Savoia, Anna ^a  

^a CASA SOLLIEVO DELLA SOFFERENZA HOSPITAL   (Italy)

^b UNIVERSITY OF BOLOGNA   (Italy)

^c UNIVERSITY OF TURIN   (Italy)

^d Centro Regionale di Genetica Umana   (Italy)

^e VU UNIVERSITY AMSTERDAM   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

BUTADIENE DIEPOXIDE; DNA; RNA;

ARTICLE; CLINICAL ARTICLE; CONTROLLED STUDY; DNA POLYMORPHISM; EXON; FANCONI ANEMIA; GENE DUPLICATION; GENE INSERTION; HUMAN; HUMAN CELL; HYDROPHOBICITY; INTRON; ITALY; LYMPHOBLASTOID CELL; MISSENSE MUTATION; NONSENSE MUTATION; PRIORITY JOURNAL; SINGLE STRAND CONFORMATION POLYMORPHISM;

EID: 0031440867     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/301632     Document Type: Article

References (24)

1. Auerbach AD (1993) Fanconi anemia diagnosis and the diepoxybutane (DEB) test. Exp Hematol 21:731-733
2. Buchwald M (1995) Complementation groups: one or more per gene? Nat Genet 11:228-230
3. Butturini A, Gale RP, Verlander PC, Adler-Brecher B, Gillio A, Auerbach AD (1994) Hematologic abnormalities in Fanconi anemia: an international Fanconi anemia study. Blood 84: 1650-1655
4. Chirgwin JM, Przybyla AE, MacDonald RJ, Rutter WJ (1979) Isolation of biologically active ribonucleic acid from sources enriched in ribonuclease. Biochemistry 18:5294-5299
5. FAB Consortium (1996) Positional cloning of the Fanconi anemia group A gene. Nat Genet 14:324-328
6. Gibson RA, Hajianpour A, Murer-Orlando M, Buchwald M, Mathew CG (1993) A nonsense mutation and exon skipping in the Fanconi anaemia group C gene. Hum Mol Genet 2: 797-799
7. Gibson RA, Morgan NV, Goldstein LH, Pearson IC, Kesterton IP, Foot NJ, Jansen S, et al (1996) Novel mutations and polymorphisms in the Fanconi anemia group C gene. Hum Mutat 8:140-148
8. Gschwend M, Levran O, Kruglyak L, Ranade K, Verlander PC, Shen S, Faure S, et al (1996) A locus for Fanconi anemia on 16q determined by homozygosity mapping. Am J Hum Genet 59:377-384
9. Ianzano L, d'Apolito M, Centra M, Savino M, Levran O, Auerbach AD, Cleton-Jansen A-M, et al (1997) The genomic organisation of the Fanconi anemia group A (FAA) gene. Genomics 41:309-314
10. Joenje H, Lo Ten Foe JR, Oostra AB, van Berkel CGM, Rooimans MA, Schroeder-Kurth T, Wegner R-D, et al (1995) Classification of Fanconi anemia patients by complementation analysis: evidence for a fifth genetic subtype. Blood 86:2156-2160
11. Lo Ten Foe JR, Kruyt FAE, Zweekhoest MBM, Pals G, Gibson RA, Mathew CG, Joenje H, et al. Exon 6 skipping in the Fanconi anemia C gene associated with a nonsense/missense mutation (775C→T) in exon 5. Hum Mutat (in press)
12. Lo Ten Foe JR, Rooimans AA, Bosnoyan-Collins L, Alon N, Wijker M, Parker L, Lightfoot J, et al (1996a) Expression cloning of a cDNA for the major Fanconi anemia gene, FAA. Nat Genet 14:320-323
13. Lo Ten Foe JR, Rooimans MA, Joenje H, Arwert F (1996b) Novel frameshift mutation (1806insA) in exon 14 of the Fanconi anemia C gene, FAC. Hum Mutat 7:264-265
14. Murer-Orlando M, Llerena JC, Birjandi F, Gibson RA, Mathew CG (1993) FACC gene mutations and early prenatal diagnosis of Fanconi's anaemia. Lancet 342:686
15. Pronk JC, Gibson RA, Savoia A, Wijker M, Morgan NV, Melchionda S, Ford D, et al (1995) Localization of the Fanconi anemia complementation group A gene to chromosome 16q24.3 by linkage analysis and allelic association. Nat Genet 11:338-340
16. Sakar G, Yoon H-S, Sommer S (1992) Screening for mutations by RNA single strand conformation polymorphism (rRNA): comparison with DNA-SSCP. Nucleic Acids Res 20:871-878
17. Sambrook J, Fritsch EF, Maniatis T (1989) Molecular cloning: a laboratory manual. Cold Spring Harbor Laboratory Press, Cold Spring Harbor, NY
18. Savoia A, Piemontese MR, Savino M, Zatterale A, Pronk J, Arwert F, Joenje H, et al (1997) Linkage analysis of Fanconi anemia in Italy and mapping of the complementation group A gene. Hum Genet 99:93-97
19. Savoia A, Zatterale A, Del Principe D, Joenje H (1996) Fanconi anemia in Italy: high prevalence of complementation group A in two geographic clusters. Hum Genet 97:599-603
20. Shapiro MB, Senapathy P (1987) RNA splice junctions of different classes of eukaryotes: sequence statistics and functional implications in gene expression. Nucleic Acids Res 15:7155-7174
21. Strathdee CA, Duncan AMV, Buchwald M (1992a) Evidence for at least four Fanconi anemia genes including FACC on chromosome 9. Nat Genet 1:196-198
22. Strathdee CA, Gavish H, Shannon WR, Buchwald M (1992b) Cloning of cDNAs for Fanconi's anemia by functional complementation. Nature 356:763-767
23. Verlander PC, Lin JD, Udono MU, Zhang Q, Gibson RA, Mathew CG, Auerbach AD (1994) Mutation analysis of the Fanconi anemia gene FACC. Am J Hum Genet 54:595-601
24. Whitney MA, Saito H, Jakobs PM, Gibson RA, Moses RE, Grompe M (1993) A common mutation in the FACC gene causes Fanconi anaemia in Ashkenazi Jews. Nat Genet 4: 202-205