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| PREDICTIVE TESTING FOR WILSONS-DISEASE USING TIGHTLY LINKED AND FLANKING DNA MARKERS |
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| Author(s): FARRER LA, BOWCOCK AM, HEBERT JM, BONNETAMIR B, STERNLIEB I, GIAGHEDDU M, STGEORGEHYSLOP P, FRYDMAN M, LOSSNER J, DEMELIA L, CARCASSI C, LEE R, BEKER R, BALE AE, DONISKELLER H, SCHEINBERG IH, CAVALLISFORZA LL |
| Source: NEUROLOGY Volume: 41 Issue: 7 Pages: 992-999 Published: JUL 1991 |
| Times Cited: 58 References: 54 |
| Abstract: We studied DNA polymorphisms for five new chromosome 13 markers in 52 Wilson's disease (WD) families from Europe, North America, and the Middle East. There was significant evidence for linkage between the Wilson's disease locus (WND) and all the marker loci. Multilocus linkage analysis, using a genetic linkage map established from reference pedigrees, suggested that WND is most likely between D13S31 and D13S59, at distances of 0.4 and 1.2 centimorgans, respectively. Our results suggest that the chromosomal location of the Wilson's disease gene is the same in all families from the populations studied. This evidence and the availability of many close, flanking, and polymorphic DNA markers make possible accurate and informative testing of potential carriers and WD homozygotes in families with at least one previously affected child. An advantage of a genetic linkage test over other laboratory methods for prediction of genotype in WD is that a reliable diagnosis can be made at a much earlier stage in life, including prenatally. In addition, DNA testing can be used in place of an invasive liver biopsy procedure to confirm a diagnosis in patients with borderline serum ceruloplasmin levels. Presymptomatic identification will also allow therapeutic intervention to prevent symptoms before irreparable liver or neurologic damage occurs. We describe the implementation of parenatal and preclinical diagnosis for two families with WD. |
| Document Type: Article |
| Language: English |
| Reprint Address: FARRER, LA (reprint author), BOSTON UNIV, SCH MED, DEPT NEUROL, 80 E CONCORD ST, BOSTON, MA 02118 USA |
Addresses:
1. BOSTON UNIV, SCH PUBL HLTH, BOSTON, MA 02215 USA
2. HARVARD UNIV, SCH MED, DEPT NEUROL, BOSTON, MA 02115 USA
3. STANFORD UNIV, MED CTR, SCH MED, DEPT GENET, STANFORD, CA 94305 USA
4. TEL AVIV UNIV, SACKLER SCH MED, DEPT HUMAN GENET, TEL AVIV, ISRAEL
5. YESHIVA UNIV ALBERT EINSTEIN COLL MED, BRONX, NY 10461 USA
6. UNIV CAGLIARI, IST CLIN NEUROL & MED, I-09100 CAGLIARI, ITALY
7. UNIV TORONTO, DEPT NEUROL, TORONTO M5S 1A1, ONTARIO CANADA
8. UNIV TORONTO, DEPT MED, TORONTO M5S 1A1, ONTARIO CANADA
9. HASHARON HOSP, PEDIAT GENET CLIN, PETAH TIQWA, ISRAEL
10. KARL MARX UNIV, DEPT NEUROL, O-7010 LEIPZIG, GERMANY
11. YALE UNIV, SCH MED, DEPT HUMAN GENET, NEW HAVEN, CT 06510 USA
12. WASHINGTON UNIV, DEPT GENET, ST LOUIS, MO 63130 USA |
| Publisher: LITTLE BROWN CO, 34 BEACON STREET, BOSTON, MA 02108-1493 |
| Subject Category: Clinical Neurology |
| IDS Number: FX123 |
| ISSN: 0028-3878 |
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