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| LOCALIZATION OF THE FANCONI-ANEMIA COMPLEMENTATION GROUP-A GENE TO CHROMOSOME 16Q24.3 |
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| Author(s): PRONK JC, GIBSON RA, SAVOIA A, WIJKER M, MORGAN NV, MELCHIONDA S, FORD D, TEMTAMY S, ORTEGA JJ, JANSEN S, HAVENGA C, COHN RJ, DERAVEL TJ, ROBERTS I, WESTERVELD A, EASTON DF, JOENJE H, MATHEW CG, ARWERT F |
| Source: NATURE GENETICS Volume: 11 Issue: 3 Pages: 338-340 Published: NOV 1995 |
| Times Cited: 75 References: 18 |
| Abstract: Fanconi anaemia (FA) is an autosomal recessive disorder associated with diverse developmental abnormalities, bone-marrow failure and predisposition to cancer(1). FA cells show increased chromosome breakage and hypersensitivity to DNA cross-linking agents such as diepoxybutane and mitomycin C. Somatic-cell hybridisation analysis of FA cell lines has demonstrated the existence of at least five complementation groups (FA-A to FA-E)(2,3), the most common of which is FA-A(4). This genetic heterogeneity has been a major obstacle to the positional cloning of FA genes by classical linkage analysis. The FAC gene was cloned by functional complementation(5), and localised to chromosome 9q22.3 (ref. 2), but this approach has thus far failed to yield the genes for the other complementation groups. We have established a panel of families classified as FA-A by complementation analysis, and used them to search for the FAA gene by linkage analysis. We excluded the previous assignment by linkage(6) of an FA gene to chromosome 20q, and obtained conclusive evidence for linkage of FAA to microsatellite markers on chromosome 16q24.3. Strong evidence of allelic association with the disease was detected with the marker D16S303 in the Afrikaner population of South Africa, indicating the presence of a founder effect. |
| Document Type: Letter |
| Language: English |
| Reprint Address: PRONK, JC (reprint author), FREE UNIV AMSTERDAM, DEPT HUMAN GENET, AMSTERDAM, NETHERLANDS |
Addresses:
1. UNITED MED & DENT SCH, GUYS HOSP, DIV MED & MOLEC GENET, LONDON SE1 9RT, ENGLAND
2. IRCCS, OSPED CASA SOLLIEVO SOFFERENZA, SERV GENET MED, SAN GIOVANNI ROTONDO, ITALY
3. INST CANC RES, EPIDEMIOL SECT, SURREY, ENGLAND
4. NATL RES CTR, DEPT HUMAN GENET, CAIRO, EGYPT
5. HOSP INFANTIL VALL HEBRON, HEMATOL & BMT UNIT, BARCELONA, SPAIN
6. UNIV ORANGE FREE STATE, SCH MED, DEPT HUMAN GENET, BLOEMFONTEIN, SOUTH AFRICA
7. UNIV ORANGE FREE STATE, SCH MED, DEPT PAEDIAT, BLOEMFONTEIN, SOUTH AFRICA
8. S AFRICAN INST MED RES, DEPT HUMAN GENET, WITWATERSRAND, SOUTH AFRICA
9. S AFRICAN INST MED RES, DEPT PAEDIAT, WITWATERSRAND, SOUTH AFRICA
10. UNIV WITWATERSRAND, WITWATERSRAND 2050, SOUTH AFRICA
11. HAMMERSMITH HOSP, ROYAL POSTGRAD MED SCH, DEPT HAEMATOL, LONDON, ENGLAND
12. UNIV AMSTERDAM, ACAD MED CTR, DEPT HUMAN GENET, 1105 AZ AMSTERDAM, NETHERLANDS |
| Publisher: NATURE PUBLISHING CO, 345 PARK AVE SOUTH, NEW YORK, NY 10010-1707 |
| Subject Category: Genetics & Heredity |
| IDS Number: TC639 |
| ISSN: 1061-4036 |
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