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

Abstract：

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

journal_name

Am J Hum Genet

journal_title

American journal of human genetics

authors

Jaeger EE,Woodford-Richens KL,Lockett M,Rowan AJ,Sawyer EJ,Heinimann K,Rozen P,Murday VA,Whitelaw SC,Ginsberg A,Atkin WS,Lynch HT,Southey MC,Debinski H,Eng C,Bodmer WF,Talbot IC,Hodgson SV,Thomas HJ,Tomlinson IP

doi

10.1086/375144

subject

Has Abstract

pub_date

2003-05-01 00:00:00

pages

1261-7

issue

5

eissn

0002-9297

issn

1537-6605

pii

S0002-9297(07)60652-1

journal_volume

72

pub_type

杂志文章

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