Evaluation of a susceptibility gene for schizophrenia on chromosome 6p by multipoint affected sib-pair linkage analysis.
Evaluation of a susceptibility gene for schizophrenia on chromosome 6p by multipoint affected sib-pair linkage analysis.
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通过多点影响的同胞对连锁分析评估 6p 染色体上的精神分裂症易感基因。
DOI：
10.1038/ng1195-325
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发表时间：
1995
期刊：
影响因子：
--
通讯作者：
Risch,N
中科院分区：
文献类型：
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作者：
Schwab,SG;Albus,M;Hallmayer,J;Honig,S;Borrmann,M;Lichtermann,D;Ebstein,RP;Ackenheil,M;Lerer,B;Risch,N
遗传因素对精神分裂症的影响已通过家庭、双胞胎和收养研究令人信服地证明1 -3，但传播方式仍不确定。报告的复发风险模式提示一组相互作用的位点4。根据先前的证据，连锁染色体6p（K。Kendler，pers. comm.），我们用25个微卫星标记对54个家系的6号染色体短臂进行了扫描，寻找易患精神分裂症的基因座。等位基因共享身份的下降进行了检查，在受影响的同胞对这些家庭，然后进行多点同胞对连锁分析。在D 6S 470至D 6S 271的广泛区域内获得了阳性lod评分，最大lod评分为2.2，出现在D 6S 274附近，位于6p 22。然而，我们在D 6S 296处获得了-2的lod得分，这是其他人发现的提供最大连锁证据的位点5。在D 6S 274，我们报告了阳性lod评分，Straubet等人5也是如此（个体无显著性）。3.6-4.0的组合总lod表明该区域可能存在易感基因座。然而，我们的研究之间的方法差异使得很难得出明确的结论。
The influence of genetic factors in schizophrenia has been convincingly demonstrated by family, twin and adoption studies1–3, but the mode of transmission remains uncertain. The reported pattern of recurrence risks suggests a set of interacting loci4. Based on prior evidence for linkage on chromosome 6p (K. Kendler, pers. comm.), we have scanned the short arm of chromosome 6 in 54 families for loci predisposing to schizophrenia, using 25 microsatellite markers spanning 60 centiMorgans (cM). Allele sharing identity by descent was examined in affected sib-pairs from these families, followed by multipoint sib-pair linkage analysis. Positive lod scores were obtained over a wide region (D6S470toD6S271), with a maximum lod score of 2.2 occuring near D6S274, located in 6p22. However, we obtained a lod score of −2 atD6S296, the locus found by others to provide the greatest linkage evidence5. AtD6S274, we report a positive lod score as do Straubet al.5(individually non-significant). A combined total lod of 3.6–4.0 suggests the possibility of a susceptibility locus in this region. However, methodological differences between our studies makes a firm conclusion difficult.