Linkage analysis in a large Swedish family supports the presence of a susceptibility locus for adenoma and colorectal cancer on chromosome 9q22.32-31.1
Linkage analysis in a large Swedish family supports the presence of a susceptibility locus for adenoma and colorectal cancer on chromosome 9q22.32-31.1
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DOI：
10.1136/jmg.2005.033928
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发表时间：
2006-02-01
影响因子：
4
通讯作者：
Lindblom, A
中科院分区：
文献类型：
--
作者：
Skoglund, J;Djureinovic, T;Lindblom, A
背景资料：最著名的遗传性结直肠癌综合征，家族性腺瘤性息肉病（FAP）和遗传性非息肉病性结直肠癌（HNPCC），占所有结直肠癌的约2%，并且至少有同样多的非FAP，非HNPCC病例，其中家族史表明显性遗传性结直肠癌风险。最近，染色体9q22.2 - 31.2上的一个位点通过连锁分析在同胞对中与结直肠癌或腺瘤进行了鉴定。这个家庭以前进行了调查，但在几个以前未受影响的家庭成员的腺瘤的鉴定，这些科目现在被认为是基因carrier.Results：在本研究中，我们发现腺瘤和结直肠癌的连锁染色体9q22.32 - 31.1与多点LOD得分为2.4。我们还能够确定该基因座的区域为D9 S280和D9 S277之间的7.9cM。结论：我们的结果支持在该染色体区域中存在腺瘤和结直肠癌的易感基因座。
Background: The best known hereditary colorectal cancer syndromes, familial adenomatous polyposis (FAP) and hereditary non-polyposis colorectal cancer (HNPCC), constitute about 2% of all colorectal cancers, and there are at least as many non-FAP, non-HNPCC cases where the family history suggests a dominantly inherited colorectal cancer risk. Recently, a locus on chromosome 9q22.2 - 31.2 was identified by linkage analysis in sib pairs with colorectal cancer or adenoma.Methods: Linkage analysis for the suggested locus on chromosome 9 was carried out in an extended Swedish family. This family had previously been investigated but following the identification of adenomas in several previously unaffected family members, these subjects were now considered to be gene carriers.Results: In the present study, we found linkage of adenoma and colorectal cancer to chromosome 9q22.32 - 31.1 with a multipoint LOD score of 2.4. We were also able to define the region for this locus to 7.9 cM between the markers D9S280 and D9S277.Conclusions: Our result supports the presence of a susceptibility locus predisposing to adenoma and colorectal cancer in this chromosomal region.