An ancestral Ashkenazi haplotype at the HMPS/CRAC1 locus on 15q13-q14 is associated with hereditary mixed polyposis syndrome

摘要: The putative locus for hereditary mixed polyposis syndrome (HMPS) in a large family of Ashkenazi descent (SM96) was previously reported to map chromosome sub-bands 6q16–q21. However, new clinical data, together with molecular data from additional members, have shown 6q linkage be incorrect. A high-density genomewide screen the HMPS gene therefore performed on SM96, using stringent criteria assignment affection status minimize phenocopy rates. Significant evidence found only region 15q13-q14. Since this encompassed CRAC1, involved inherited susceptibility colorectal adenomas and carcinomas another (SM1311), we determined whether CRAC1 might same. We that affected individuals both families shared haplotype between D15S1031 D15S118; rare general population. third informative family, SM2952, showed disease HMPS/CRAC1 ancestral haplotype, as did further two families, SMU RF. Although there are probably multiple causes adenoma cancer phenotype Ashkenazim, an important one is 15q13–q14.