躁郁症多重家系中18号染色体DNA标记的分析

Analysis of chromosome 18 DNA markers in multiplex pedigrees with manic depression.

作者信息

Coon H, Hoff M, Holik J, Hadley D, Fang N, Reimherr F, Wender P, Byerley W

机构信息

Department of Psychiatry, University of Utah Medical School, Salt Lake City 84121, USA.

出版信息

Biol Psychiatry. 1996 Apr 15;39(8):689-96. doi: 10.1016/0006-3223(95)00292-8.

DOI:10.1016/0006-3223(95)00292-8

PMID:8731455

Abstract

Six pedigrees segregating manic-depressive illness (MDI) were analyzed for linkage to 21 highly polymorphic microsatellite DNA markers on chromosome 18. These markers span almost the entire length of the chromosome, and gaps between markers are less than 20 cM. In particular, we analyzed several markers localizing to the pericentromeric region of chromosome 18 which generated lod scores suggestive of linkage in an independent study. Lod score analysis was performed and results were examined by family. One region produced positive lod scores, though at 18q23 and not in the pericentromeric region. We additionally used two nonparametric methods because the true mode of transmission of MDI is unknown; results were again somewhat suggestive for markers in the region of 18q23 but not in the pericentromeric region.

摘要

对六个分离躁郁症（MDI）的家系进行分析，以确定其与18号染色体上21个高度多态性微卫星DNA标记的连锁关系。这些标记几乎覆盖了整个染色体长度，标记之间的间距小于20厘摩。特别是，我们分析了几个位于18号染色体着丝粒周围区域的标记，这些标记在一项独立研究中产生了提示连锁的对数优势分数。进行了对数优势分数分析，并按家系检查结果。一个区域产生了正的对数优势分数，不过是在18q23而不是着丝粒周围区域。由于MDI的真正遗传模式未知，我们还使用了两种非参数方法；结果再次在一定程度上提示18q23区域的标记存在连锁关系，但着丝粒周围区域的标记不存在连锁关系。