对三个以色列家系中躁郁症与X染色体标记之间联系的支持减弱。

Diminished support for linkage between manic depressive illness and X-chromosome markers in three Israeli pedigrees.

作者信息

Baron M, Freimer N F, Risch N, Lerer B, Alexander J R, Straub R E, Asokan S, Das K, Peterson A, Amos J

机构信息

New York State Psychiatric Institute, Columbia University College of Physicians and Surgeons, New York 10032.

出版信息

Nat Genet. 1993 Jan;3(1):49-55. doi: 10.1038/ng0193-49.

DOI:10.1038/ng0193-49

PMID:8490654

Abstract

The hypothesis that chromosomal region Xq27-28 harbours a gene for manic-depression has been a focus of interest in human genetics. X-linked inheritance of manic depressive illness has been re-examined in 3 multigeneration Israeli kindreds. Extension and re-evaluation of pedigree data, including new individuals, diagnostic follow-up, and analysis with DNA markers, shows greatly diminished support for linkage to Xq28. The peak lod scores in two of the pedigrees have dropped several lod units to clearly negative values at the RCP-F8-G6PD gene cluster. On the other hand, positive lod scores (Zmax = 2.09) are sustained in another pedigree at the same map location. None of the pedigrees show linkage to more proximal markers, including the Xq27 locus DXS98. Our analysis underscores the uncertainties in studying complex disorders.

摘要

染色体区域Xq27 - 28含有躁郁症基因这一假说一直是人类遗传学关注的焦点。在3个以色列多代家系中重新研究了躁郁症的X连锁遗传。对系谱数据进行扩展和重新评估，包括新个体、诊断随访以及使用DNA标记进行分析，结果表明支持与Xq28连锁的证据大幅减少。在两个家系中，RCP - F8 - G6PD基因簇处的最高对数优势分数下降了几个对数单位，降至明显的负值。另一方面，在同一图谱位置的另一个家系中，阳性对数优势分数（Zmax = 2.09）仍然存在。没有一个家系显示与包括Xq27位点DXS98在内的更近端标记存在连锁。我们的分析强调了研究复杂疾病时存在的不确定性。