Muir-Torre phenotype has a frequency of DNA mismatch-repair-gene mutations similar to that in hereditary nonpolyposis colorectal cancer families defined by the Amsterdam criteria

Article Abstract:

The Muir-Torre syndrome (MTS) has DNA mismatch-repair-gene mutations in numbers similar to those found in hereditary nonpolyposis colorectal cancer families as defined by the Amsterdam criteria. Int he first search for germ-line mutations in patients ascertained on the basis of sebaceous skin tumors, researchers ascertained 16 MTS patients and examined their skin and internal tumors for microsatellite instability. All showed high genomic instability in at least one tumor. MTS is an autosomal dominant disease characterized by both one internal malignancy and at least one sebaceous skin tumor, simultaneously. Colorectal cancer is the most common internal one.

Italy, Germany, Colorectal cancer, DNA damage, Skin tumors

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A gene for the universal congenital alopecia maps to chromosome 8p21-22

Article Abstract:

The gene for the hereditary form of isolated congenital alopecia has been mapped to a chromosome on 8p21-22, ALUNC, alopecia universalis congenitalis. Congenital absence of hair, or alopecia, may occur with or without associated defects. A majority of families with isolated congenital alopecia follow an autosomal-recessive inheritance mode. Genetic linkage analysis has been carried out on an inbred Pakistani family in which affected people have no hair at all using more than 175 microsatellite polymorphic markers. The condition was linked by haplotype analysis of recombination events to a 15-cM region between D8S261 and D8S1771.

Pakistan, Health aspects, Heredity, Human, Human heredity, Baldness, Alopecia, Consanguinity, Body covering (Anatomy)

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