Mapping of Hereditary Trichilemmal Cyst (TRICY1) to Chromosome 3p24-p21.2 and Exclusion of β-CATENIN and MLH1
Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › fagfællebedømt
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.
Originalsprog | Engelsk |
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Tidsskrift | American Journal of Medical Genetics |
Vol/bind | 133 A |
Udgave nummer | 1 |
Sider (fra-til) | 44-47 |
Antal sider | 4 |
ISSN | 1552-4825 |
DOI | |
Status | Udgivet - 15 feb. 2005 |
ID: 231917619