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Science 21 September 2001:
Vol. 293. no. 5538, pp. 2213 - 2214
DOI: 10.1126/science.1065930
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Perspectives

GENETICS:
The Land Between Mendelian and Multifactorial Inheritance

Arthur H. M. Burghes, Harald E. F. Vaessin, Albert de la Chapelle

Bardet-Biedl syndrome (BBS) is a heterogeneous multigenic disease that turns out to have an unusual form of inheritance (Katsanis et al.). As Burghes et al. explain in their Perspective, the disease phenotype only appears if one copy of a modifier gene at one of five loci is mutated in addition to the two copies of the BBS gene at the sixth locus.

A. H. M. Burghes is in the Department of Molecular and Cellular Biochemistry, Department of Neurology, and Department of Molecular Genetics, Ohio State University, Columbus, OH 43210, USA. E-mail: burghes.1{at}osu.edu H. E. F. Vaessin is at the Neurobiotech Center and Department of Molecular Genetics, Ohio State University, Columbus, OH 43210, USA. E-mail: vaessin.1{at}osu.edu A. de la Chapelle is at the Human Cancer Genetics Program, Comprehensive Cancer Center, Ohio State University, Columbus, OH 43210, USA. E-mail: delachapelle-1{at}medctr.osu.edu

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