Mapping of hereditary trichilemmal cyst (TRICY1) to chromosome 3p24-p21.2 and exclusion of β-Catenin and MLH1

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Trichilemmal cysts (also named pilar cyst) derived from the outer root sheath of the deeper parts of the hair follicle can segregate dominantly, and are caused by a yet unknown gene. In order to identify candidate genes for this trait we have ascertained a Danish family with 38 persons (11 affected), and carried out a genome wide scan with 580 DNA micro-satellite markers to identify the locus for a gene, which we termed TRICY1 (for trichilemmal cysts). We found tight linkage to D3S1277 (Z = 4.63; θM = F = 0.00), with flanking markers D3S2432 (Z = 1.59; θM = F = 0.08), and D3S3685 (Z = 2.69; θM = F = 0.08) spanning 10.3 Mb on chromosome 3p24-p21.2. We sequenced two candidate genes previously reported in inherited hair defects, CTNNB1 and MLH1 but failed to detect mutations in exons and intron-exon bounders.

TidsskriftAmerican Journal of Medical Genetics
Vol/bind133 A
Udgave nummer1
Sider (fra-til)44-47
Antal sider4
StatusUdgivet - 15 feb. 2005

ID: 231917619