Linkage studies in a large kindred with familial hypercholesterolemia

J. Ott, H. G. Schrott, J. L. Goldstein, W. R. Hazzard, F. H. Allen, C. T. Falk, A. G. Motulsky

Research output: Contribution to journalArticlepeer-review

43 Scopus citations


A linkage investigation with the autosomal dominant disease, familial hypercholesterolemia, was performed in a large kindred using 16 genetic markers. A new efficient computer program LIPED was used for these studies. Six of the markers (adenosine deaminase, acid phosphatase, haptoglobin, ABO, P, and Duffy) were not informative. No definite linkage between hereditary hypercholesterolemia and any genetic marker could be established. Further studies are needed to rule out linkage between familial hypercholesterolemia and the loci for C'3 complement and for the Lutheran (Lu) blood group. Close linkage between hypercholesterolemia and Gm, MN, Rh, and phosphoglucomutase 1 (PGM 1) could definitely be ruled out. The previously known linkage between Rh and PGM 1 was also suggested by this study. Close linkage between the following loci could be ruled out: PGM 1 Inv, PGM 1 MN; MN C'3, MN Gm, MN Inv, MN Rh, MN Lu; Rh Gm, Rh Inv, Rh Lu, Rh Jk; and Inv Lu.

Original languageEnglish (US)
Pages (from-to)598-603
Number of pages6
JournalAmerican Journal of Human Genetics
Issue number5
StatePublished - Dec 1 1974

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)


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