TY - JOUR
T1 - Polymorphic microsatellites and Wilson disease (WD)
AU - Stewart, E. A.
AU - White, A.
AU - Tomfohrde, J.
AU - Osborne-Lawrence, S.
AU - Prestridge, L.
AU - Bonne-Tamir, B.
AU - Scheinberg, I. H.
AU - St George-Hyslop, P.
AU - Giagheddu, M.
AU - Kim, J. W.
AU - Seo, J. K.
AU - Lo, W. H.Y.
AU - Ivanova-Smolenskaya, I. A.
AU - Limborska, S. A.
AU - Cavalli-Sforza, L. L.
AU - Farrer, L. A.
AU - Bowcock, A. M.
PY - 1993/10
Y1 - 1993/10
N2 - Wilson disease (WD), an autosomal recessive disorder of copper metabolism, has been previously mapped to chromosome 13q. Highly informative PCR-based polymorphic microsatellites closely linked to the WD locus (WND) at 13q14.3, as well as sequence-tagged sites for closely linked loci, are described. Two polymorphic microsatellite markers at D13S118 and D13S119 lie within 3 cM of WND. Two others (D13S227 and D13S228) were derived from a yeast artificial chromosome containing D13S31. These were placed on a genetic linkage map of chromosome 13 and were typed in 74 multiplex WD families from a variety of geographic origins (166 affected members). Multipoint analysis provides very high odds that the location of WND is between D13S31/ D13S227/D13S228 and D13S59. Previous odds with RFLP-based markers were only 7:1 more likely than any other location. Current odds are 5,000:1. Preclinical testing of three cases of WD by using the highly informative polymorphic microsatellite markers is described. The markers described here ensure that 95% of predictive tests using DNA from both parents and from at least one affected sib will have an accuracy >99%.
AB - Wilson disease (WD), an autosomal recessive disorder of copper metabolism, has been previously mapped to chromosome 13q. Highly informative PCR-based polymorphic microsatellites closely linked to the WD locus (WND) at 13q14.3, as well as sequence-tagged sites for closely linked loci, are described. Two polymorphic microsatellite markers at D13S118 and D13S119 lie within 3 cM of WND. Two others (D13S227 and D13S228) were derived from a yeast artificial chromosome containing D13S31. These were placed on a genetic linkage map of chromosome 13 and were typed in 74 multiplex WD families from a variety of geographic origins (166 affected members). Multipoint analysis provides very high odds that the location of WND is between D13S31/ D13S227/D13S228 and D13S59. Previous odds with RFLP-based markers were only 7:1 more likely than any other location. Current odds are 5,000:1. Preclinical testing of three cases of WD by using the highly informative polymorphic microsatellite markers is described. The markers described here ensure that 95% of predictive tests using DNA from both parents and from at least one affected sib will have an accuracy >99%.
UR - http://www.scopus.com/inward/record.url?scp=0027507834&partnerID=8YFLogxK
M3 - Article
C2 - 8213814
AN - SCOPUS:0027507834
SN - 0002-9297
VL - 53
SP - 864
EP - 873
JO - American Journal of Human Genetics
JF - American Journal of Human Genetics
IS - 4
ER -