Genomewide scan in families with schizophrenia from the founder population of Afrikaners reveals evidence for linkage and uniparental disomy on chromosome 1
Genomewide scan in families with schizophrenia from the founder population of Afrikaners reveals evidence for linkage and uniparental disomy on chromosome 1
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DOI：
10.1086/381713
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发表时间：
2004-03-01
影响因子：
9.8
通讯作者：
Karayiorgou, M
中科院分区：
文献类型：
--
作者：
Abecasis, GR;Burt, RA;Karayiorgou, M
我们报告了我们对南非南非荷兰人基因隔离人群中精神分裂症的初步遗传连锁研究。对 143 个小家族进行了 10 cM 全基因组扫描，其中 34 个家族提供了连锁信息。通过非参数和参数连锁分析，我们获得了 1、9 和 13 号染色体上少数疾病位点的证据。这些结果表明，在南非荷兰语人群中，几乎不存在对精神分裂症有实质性影响的基因，这与我们之前的谱系追踪研究一致。 1 号染色体上的基因座达到全基因组显着水平（标记 D1S1612 的非参数 LOD 评分为 3.30，对应于经验 P 值为 0.012），代表了精神分裂症的一个新的易感基因座。除了提供 1 号染色体连锁的证据外，我们还鉴定了一个先证者整个 1 号染色体具有单亲二体性 (UPD)。这是首次在精神分裂症患者中描述 UPD，进一步支持了 1 号染色体参与了南非荷兰语人的精神分裂症易感性。
We report on our initial genetic linkage studies of schizophrenia in the genetically isolated population of the Afrikaners from South Africa. A 10-cM genomewide scan was performed on 143 small families, 34 of which were informative for linkage. Using both nonparametric and parametric linkage analyses, we obtained evidence for a small number of disease loci on chromosomes 1, 9, and 13. These results suggest that few genes of substantial effect exist for schizophrenia in the Afrikaner population, consistent with our previous genealogical tracing studies. The locus on chromosome 1 reached genomewide significance levels ( nonparametric LOD score of 3.30 at marker D1S1612, corresponding to an empirical P value of .012) and represents a novel susceptibility locus for schizophrenia. In addition to providing evidence for linkage for chromosome 1, we also identified a proband with a uniparental disomy (UPD) of the entire chromosome 1. This is the first time a UPD has been described in a patient with schizophrenia, lending further support to involvement of chromosome 1 in schizophrenia susceptibility in the Afrikaners.