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Initial genome scan of the NIMH genetics initiative bipolar pedigrees: Chromosomes 1, 6, 8, 10, and 12
Authors:John P. Rice  Alison Goate  Jeff T. Williams  Laura Bierut  David Dorr  William Wu  Shantia Shears  Gayathri Gopalakrishnan  Howard J. Edenberg  Tatiana Foroud  John Nurnberger  Elliot S. Gershon  Sevilla D. Detera-Wadleigh  Lynn R. Goldin  Juliet J. Guroff  Francis J. McMahon  Sylvia Simpson  Dean MacKinnon  Melvin McInnis  O. Colin Stine  J. Raymond DePaulo  Mary C. Blehar  Theodore Reich
Abstract:
A report on an initial genome screen on 540 individuals in 97 families was collected as part of the NIMH Genetics Initiative on Bipolar Disorder. Families were ascertained to be informative for genetic linkage and underwent a common ascertainment and assessment protocol at four clinical sites. The sample was genotyped for 65 highly polymorphic markers from chromosomes 1, 6, 8, 10, and 12. The average intermarker interval was 16 cM. Genotypic data was analyzed using affected sib pair, multipoint affected sib pair, and pedigree analysis methods. Multipoint methods gave lod scores of approximately two on chromosomes 1, 6, and 10. The peak lod score on chromosome 6 occurred at the end of the q-arm, at some distance from the 6p24-22 area previously implicated for schizophrenia. We are currently genotyping additional markers to reduce the intermarker interval around the signals . The interpretation of results from a genome screen of a complex disorder and the problem of achieving a balance between detecting false positive results and the ability to detect genes of modest effect are discussed. Am. J. Med. Genet. 74:247–253, 1997. © 1997 Wiley-Liss, Inc.
Keywords:bipolar disorder  inkage analysis  genome scan  genome screen  affected sib pairs
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