Structure of the Human MLH1 Locus and Analysis of a Large Hereditary Nonpolyposis Colorectal Carcinoma Kindred for mlh1 Mutations
作者： Richard D Kolodner , Nigel R Hall , Lipford J , Michael F Kane , Paul T Morrison
DOI:
关键词: Locus (genetics) 、 Exon 、 Genetics 、 Frameshift mutation 、 Gene 、 MLH1 、 Nucleic acid sequence 、 Biology 、 DNA mismatch repair 、 genomic DNA
摘要: Abstract Hereditary nonpolyposis colorectal carcinoma is a major cancer susceptibility syndrome known to be caused by inheritance of mutations in at least four genes such as hMSH2, hMLH1, hPMS1 , and hPMS2 which encode components DNA mismatch repair system. The hMLH1 genomic locus on chromosome 3p has been cloned shown cover ∼58 kilobases contain 19 exons. sequence all the intron-exon junctions determined used develop methods for analyzing each exon mutations. Using these analyze 3p-linked hereditary kindred, we have demonstrated that this family due frame shift mutation gene.
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