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J Med Genet 1992;29:638-641 doi:10.1136/jmg.29.9.638
  • Research Article

Multipoint mapping of adult onset polycystic kidney disease (PKD1) on chromosome 16.

  1. P M Pignatelli,
  2. S E Pound,
  3. A D Carothers,
  4. A M Macnicol,
  5. P L Allan,
  6. M L Watson,
  7. A F Wright
  1. MRC Human Genetics Unit, Western General Hospital, Edinburgh.

      Abstract

      Analysis of genetic linkage data in 33 adult onset polycystic kidney (ADPKD) families was carried out using probes for the D16S85, D16S84, and D16S94 loci. The data set of 33 families shows no evidence of genetic heterogeneity since one unlinked family was previously excluded. Two point linkage analysis showed maximum likelihood values of the recombination fraction of 0.07 for ADPKD and D16S85 (lod score 18.78), 0.02 for ADPKD and D16S84 (lod score 7.55), and 0.00 for ADPKD and D16S94 (lod score 6.73). Multipoint analysis showed a maximum likelihood order of tel-D16S85-0.06-D16S84-0.02-(PKD1, D16S94)-cen with a multipoint lod score of 32.16. Analysis of rare recombinants lying close to PKD1 gave results consistent with this order.

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