GENETIC-MAPPING OF A LOCUS PREDISPOSING TO HUMAN COLORECTAL-CANCER
GENETIC-MAPPING OF A LOCUS PREDISPOSING TO HUMAN COLORECTAL-CANCER
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DOI：
10.1126/science.8484120
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发表时间：
1993-05-07
期刊：
影响因子：
56.9
通讯作者：
VOGELSTEIN, B
中科院分区：
文献类型：
--
作者：
PELTOMAKI, P;AALTONEN, LA;VOGELSTEIN, B
遗传连锁分析被用来确定是否有一个特定的染色体位点可能牵连到家族的早发性癌症的历史，但没有其他独特的功能。在两个大的基因组中证实了疾病与2号染色体上的匿名微卫星标记的紧密连锁。在这些基因组中，与标记D2S123连锁的成对lod值在零重组时分别为6.39和1.45，与侧翼标记的多点连锁导致lod值为6.47和6.01。这些结果证明存在遗传决定的大肠癌易感性，这对理解和预防这种疾病具有重要意义。
Genetic linkage analysis was used to determine whether a specific chromosomal locus could be implicated in families with a history of early onset cancer but with no other unique features. Close linkage of disease to anonymous microsatellite markers on chromosome 2 was demonstrated in two large kindreds. The pairwise lod scores for linkage to marker D2S123 in these kindreds were 6.39 and 1.45 at zero recombination, and multipoint linkage with flanking markers resulted in lod scores of 6.47 and 6.01. These results prove the existence of a genetically determined predisposition to colorectal cancer that has important ramifications for understanding and preventing this disease.