Mutation analysis of the Fanconi anemia gene FACC

American Journal of Human Genetics

Volumn 54, Issue 4, 1994, Pages 595-601

  Verlander, Peter C ^a   Lin, Jean D ^a   Udono, Masako U ^a   Zhang, Qiao ^a   Gibson, Rachel A ^b   Mathew, Christopher G ^b   Auerbach, Arleen D ^a  

^a ROCKEFELLER UNIVERSITY   (United States)

^b GUY S HOSPITAL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; CLINICAL ARTICLE; DNA CROSS LINKING; EXON; FANCONI ANEMIA; GENE FREQUENCY; GENE MUTATION; GENE SEQUENCE; HUMAN; INTRON; PRIORITY JOURNAL;

BASE SEQUENCE; CHILD; DNA MUTATIONAL ANALYSIS; DNA, SINGLE-STRANDED; FANCONI ANEMIA; FEMALE; GENE EXPRESSION; GENETIC COMPLEMENTATION TEST; GENOTYPE; HETEROZYGOTE DETECTION; HUMANS; INFANT; MALE; MOLECULAR SEQUENCE DATA; NUCLEIC ACID CONFORMATION; PEDIGREE; PHENOTYPE; POINT MUTATION; POLYMORPHISM, GENETIC; VARIATION (GENETICS);

EID: 0028231738     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (19)

1. Adler-Brecher B, Zhang Q, Flit Y, Gray DL, Beaver HA, Reid JE, Auerbach AD (1992) Prenatal diagnosis of Fanconi anemia in monozygotic twin boys with discordant phenotype. Am J Hum Genet Suppl 51:A251
2. Auerbach AD, Adler B, Chaganti RSK (1981) Prenatal and postnatal diagnosis and carrier detection of Fanconi anemia by a cytogenetic method. Pediatrics 67:128-135
3. Auerbach AD, Allen RG (1991) Leukemia and preleukemia in Fanconi anemia patients: a review of the literature and report of the International Fanconi Anemia Registry. Cancer Genet Cytogenet 51:1-12
4. Auerbach AD, Rogatko A, Schroeder-Kurth TM (1989) International Fanconi Anemia Registry: relation of clinical symptoms to diepoxybutane sensitivity. Blood 73:391-396
5. Auerbach AD, Sagi M, Adler B (1985) Fanconi anemia: prenatal diagnosis in 30 fetuses at risk. Pediatrics 76:794-800
6. Auerbach AD, Wolman SR (1976) Susceptibility of Fanconi's anaemia fibroblasts to chromosome damage by carcinogens. Nature 261:494-496
7. Auerbach AD, Zhang M, Ghosh R, Pergament E, Verlinsky Y, Nicholas H, Boué J (1986) Clastogen-induced chromosomal breakage as a marker for first trimester prenatal diagnosis of Fanconi anemia. Hum Genet 73:86-88
8. Buchwald M, Clarke C, Ng J, Duckworth-Rysiecki G, Weksberg R (1989) Complementation and gene transfer studies in Fanconi anemia. In: Schroeder-Kurth TM, Auerbach AD, Obe G (eds) Fanconi anemia: clinical, cytogenetic and experimental aspects. Springer, Heidelberg, pp 226-235
9. Clackson R, Gussow D, Jones PT (1991) General applications of PCR to gene cloning and manipulation. In: McPherson MJ, Quirke P, Taylor GR (eds) Polymerase chain reaction: a practical approach. Oxford University Press, New York, pp 187-214
10. Giampietro PF, Adler-Brecher B, Verlander PC, Pavlakis SG, Davis JG, Auerbach AD (1993) The need for more accurate and timely diagnosis in Fanconi anemia: a report from the International Fanconi Anemia Registry. Pediatrics 91:1116-1120
11. Gibson RA, Buchwald M, Roberts RG, Mathew CG (1993a) Characterisation of the exon structure of the Fanconi anaemia group C gene by vectorette PCR. Hum Mol Genet 2:35-38
12. Gibson RA, Hajianpour A, Murer-Orlando M, Buchwald M, Mathew CG (1993b) A nonsense mutation and exon skipping in the Fanconi anaemia group C gene. Hum Mol Genet 2:797-799
13. McPherson MJ, Jones KM, Gurr SJ (1991) PCR with highly degenerate primers. In: McPherson MJ, Quirke P, Taylor GR (eds) Polymerase chain reaction: a practical approach. Oxford University Press, New York, pp 171-186
14. Mann WR, Venkatraj VS, Allen RG, Liu Q, Olsen DA, Adler-Brecher B, Mao J, et al (1991) Fanconi anemia: evidence for linkage heterogeneity on chromosome 20q. Genomics 9:329-337
15. Orita M, Iwahana H, Kanazawa H, Hayashi K, Sekiya T (1989) Detection of polymorphisms of human DNA by gel electrophoresis as single strand conformation polymorphisms. Proc Natl Acad Sci USA 86:2766-2770
16. Strathdee CA, Duncan AMV, Buchwald M (1992a) Evidence for at least four Fanconi anaemia genes including FACC on chromosome 9. Nature Genet 1:196-198
17. Strathdee CA, Gavish H, Shannon WR, Buchwald M (1992b) Cloning of cDNAs for Fanconi's anaemia by functional complementation. Nature 356:763-767
18. Verlander PC, Mann WR, Zhang Q, Adler-Brecher B, Sherman SL, Buchwald M, Auerbach AD (1992) Fanconi anemia: linkage analysis with chromosome 9q and 20q markers. Am J Hum Genet Suppl 51:A204
19. 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. Nature Genet 4:202-205