High frequency of large intragenic deletions in the Fanconi anemia group A gene

American Journal of Human Genetics

Volumn 65, Issue 5, 1999, Pages 1330-1341

  Morgan, Neil V ^a   Tipping, Alex J ^a   Joenje, Hans ^b   Mathew, Christopher G ^a  

^a GUY S HOSPITAL   (United Kingdom)

^b VU UNIVERSITY AMSTERDAM   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; CLINICAL ARTICLE; CONTROLLED STUDY; FANCONI ANEMIA; GENE DELETION; GENETIC SCREENING; HETEROZYGOSITY; HUMAN; HUMAN CELL; MUTATION RATE; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL;

EID: 0033361938     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/302627     Document Type: Article

References (28)

1. Auerbach AD (1993) Fanconi anemia diagnosis and the dicpoxybutane (DEB) test. Exp Hematol 21:731-373
2. Centra M, Memeo E, d'Apolito M, Savino M, Ianzano L, Notarangelo A, Liu J, et al (1998) Fine exon-intron structure of the Fanconi anemia group A (FAA) gene and characterization of two genomic deletions. Genomics 51:463-467
3. Chomczynski P, Sacchi N (1987) Single-step method of RNA isolation by acid guanidinium thiocyanate-phenol-chloroform extraction. Anal Biochem 162:156-159
4. Cotton RGH, Rodrigues NR, Campbell RD (1988) Reactivity of cytosine and thymine in single-base-pair mismatches with hydroxylamine and osmium tetroxide and its application to the study of mutations. Proc Natl Acad Sci USA 85:4397-4401
5. De Winter JP, Waisfisz Q, Rooimans MA, van Berkel CGM, Bosnoyan-Collins L, Alon N, Bender O, et al (1998) The Fanconi anaemia group G gene FANCG is identical with XRCC9. Nat Genet 20:281-283
6. Ellis TP, Humphrey KE, Smith MJ, Cotton RGH (1998) Chemical cleavage of mismatch: a new look at an established method. Hum Mutat 11:345-353
7. Fanconi Anaemia/Breast Cancer Consortium (1996) Positional cloning of the Fanconi anaemia group A gene. Nat Genet 14:324-328
8. 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
9. Ianzano L, D'Apolito M, Centra M, Savino M, Levran O, Auerbach AD, Cleton-Jansen AM, et al (1997) The genomic organization of the Fanconi anemia group A (FAA) gene. Genomics 41:309-314
10. Joenje H, Lo Ten Foe JR, Oostra AB, van Berkel CG, Rooimans MA, Schroeder-Kurth T, Wegner RD, et al (1995) Classification of Fanconi anemia patients by complementation analysis: evidence for a fifth genetic subtype. Blood 86: 2156-2160
11. Joenje H, Oostra AB, Wijker M, di Summa FM, van Berkel CG, Rooimans M, Ebell W, et al (1997) Evidence for at least eight Fanconi anemia genes. Am J Hum Genet 61:940-944
12. Kupfer G, Naf D, Garcia-Higuera I, Wasik J, Cheng A, Yamashita T, Tipping A, et al (1999) A patient-derived mutant form of the Fanconi anaemia protein, FANCA, is defective in nuclear accumulation. Exp Hematol 27:587-593
13. Levran O, Doggett NA, Auerbach AD (1998) Identification of Alu-mediated deletions in the Fanconi anemia gene FAA. Hum Mutat 12:145-152
14. Levran O, Erlich T, Magdolena N, Gregory JJ, Batish SD, Verlander PC, Auerbach AD (1997) Sequence variation in the Fanconi anemia gene FAA. Proc Natl Acad Sci USA 94: 13051-13056
15. Lo Ten Foe JR, Rooimans MA, Bosnoyan-Collins L, Alon N, Wijker M, Parker L, Lightfoot J, et al (1996) Expression cloning of a cDNA for the major Fanconi anaemia gene, FAA. Nat Genet 14:320-323
16. Puget N, Stoppa-Lyonnet D, Sinilnikova OM, Pages S, Lynch HT, Lenoir GM, Mazoyer S (1999) Screening for germ-line rearrangements and regulatory mutations in BRCA1 led to the identification of four new deletions. Cancer Res 59: 455-461
17. Purandare SM, Patel PI (1997) Recombination hot spots and human disease. Genome Res 7:773-786
18. Rowley G, Saad S, Giannelli F, Green PM (1995) Ultrarapid mutation detection by multiplex, solid-phase chemical cleavage. Genomics 30:574-582
19. Savino M, Ianzano L, Strippoli P, Ramenghi U, Arslanian A, Bagnara GP, Joenje H, et al (1997) Mutations of the Fanconi anemia group A gene (FAA) in Italian patients. Am J Hum Genet 61:1246-1253
20. Savoia A, Zatterale A, Del Principe D Joenje H (1996) Fanconi anaemia in Italy: high prevalence of complementation clusters. Hum Genet 97:599-603
21. Strathdee CA, Duncan AM, Buchwald M (1992) Evidence for at least four Fanconi anaemia genes including FACC on chromosome 9. Nat Genet 1:196-198
22. Tachibana A, Kato T, Ejima Y, Yamada T, Shimizu T, Yang L, Tsunematsu Y, et al (1999) The FANCA gene in Japanese Fanconi anemia: reports of eight novel mutations and analysis of sequence variability. Hum Mutat 13:237-244
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. Waisfisz Q, Saar K, Morgan NV, Altay C, Leegwater PA, de Winter JP, Komatsu K, et al (1999) The Fanconi anaemia group E gene, FANCE, maps to chromosome 6p. Am J Hum Genet 64:1400-1405
25. Whitmore S, Crawford J, Apostolou S, Eyre H, Baker E, Lower KM, Settasatian C, et al (1998) Construction of a high-resolution physical and transcription map of chromosome 16q24.3: a region of frequent loss of heterozygosity in sporadic breast cancer. Genomics 50:1-8
26. Whitney M, Thayer M, Reifsteck C, Olson S, Smith L, Jakobs PM, Leach R, et al (1995) Microcell mediated chromosome transfer maps the Fanconi anaemia group D gene to chromosome 3p. Nat Genet 11:341-343
27. Wijker M, Morgan NV, Herterich S, van Berkel CGM, Tipping AJ, Schindler D, Gille JJP, et al (1999) Heterogeneous spectrum of mutations in the Fanconi anaemia group A gene. Eur J Hum Genet 7:52-59
28. Yau SC, Bobrow M, Mathew CG, Abbs SJ (1996) Accurate diagnosis of carriers of deletions and duplications in Duchenne/Becker muscular dystrophy by fluorescent dosage analysis. J Med Genet 33:550-558