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Presymptomatic diagnosis of polycystic kidney disease 1 (PKD1) is possible by genetic linkage analysis with markers from both sides of the disease locus. The existing proximal markers are not informative in many families, so such analysis is difficult and time-consuming. We sought more useful length polymorphisms on the proximal side of the locus among simple sequence repeats (microsatellites). We identified two microsatellite polymorphisms that lie closer to the PKD1 locus than any previously described highly variable marker. One, SM7, is especially informative; we have found fourteen alleles and the observed heterozygosity in caucasians is 62.7%. Genetic linkage analysis in PKD1 families suggests that both of the markers lie proximal to the disease gene, closer than existing flanking markers. These polymorphisms can be simply assayed by polymerase chain reaction amplification of the variable regions, which generates DNA fragments that can be separated on non-denaturing acrylamide gels and directly examined after gel staining. This rapid, inexpensive, and non-radioactive method of linkage analysis allows the complete study of DNA samples within 8 h.

Type

Journal article

Journal

Lancet

Publication Date

14/12/1991

Volume

338

Pages

1484 - 1487

Keywords

Alleles, Base Sequence, Chromosomes, Human, Pair 16, Cosmids, DNA, Genetic Testing, Humans, Lod Score, Molecular Sequence Data, Nucleotide Mapping, Polycystic Kidney, Autosomal Dominant, Polymerase Chain Reaction, Polymorphism, Genetic