학술논문
Initial genome scan of the NIMH genetics initiative bipolar pedigrees: Chromosomes 1, 6, 8, 10, and 12
Document Type
Article
Author
Rice, John P.; Goate, Alison; Williams, Jeff T.; Bierut, Laura; Dorr, David; Wu, William; Shears, Shantia; Gopalakrishnan, Gayathri; Edenberg, Howard J.; Foroud, Tatiana; Nurnberger, John; Gershon, Elliot S.; Detera-Wadleigh, Sevilla D.; Goldin, Lynn R.; Guroff, Juliet J.; McMahon, Francis J.; Simpson, Sylvia; MacKinnon, Dean; McInnis, Melvin; Stine, O. Colin; DePaulo, J. Raymond; Blehar, Mary C.; Reich, Theodore
Source
American Journal of Medical Genetics. Part A; 31 May 1997, Vol. 74 Issue: 3 p247-253, 7p
Subject
Language
ISSN
15524825; 15524833
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. 74:247253, 1997. © 1997 Wiley-Liss, Inc.