Copyright © 1998 The American Society of Human Genetics. All rights reserved.
The American Journal of Human Genetics, Volume 62, Issue 2, 386-390, 1 February 1998
doi:10.1086/301717
A Gene for Universal Congenital Alopecia Maps to Chromosome 8p21-22
Markus M. Nöthen1, 
, 
, Sven Cichon1, Ina R. Vogt1, Susanne Hemmer1, Roland Kruse1, Michael Knapp2, Tobias Höller2, Muhammad Faiyaz ul Haque4, 5, Sayedul Haque4, Peter Propping1, Mahmud Ahmad4 and Marcella Rietschel1, 3
1 Institute of Human Genetics, University of Bonn, Bonn
2 Institute for Medical Statistics, University of Bonn, Bonn
3 Department of Psychiatry, University of Bonn, Bonn
4 Department of Biological Sciences, Quaid-i-Azam University, Islamabad, Pakistan
5 Medical Genetics, Ahmanson Department of Pediatrics, Cedars-Sinai Research Institute, Los Angeles
Address for correspondence and reprints: Dr. Markus M. Nöthen, Institute of Human Genetics, University of Bonn, Wilhelmstrasse 31, 53111 Bonn, GermanyAbstract
Complete or partial congenital absence of hair (congenital alopecia) may occur either in isolation or with associated defects. The majority of families with isolated congenital alopecia has been reported to follow an autosomal-recessive mode of inheritance (MIM 203655). As yet, no gene has been linked to isolated congenital alopecia, nor has linkage been established to a specific region of the genome. In an attempt to map the gene for the autosomal recessive form of the disorder, we have performed genetic linkage analysis on a large inbred Pakistani family in which affected persons show complete absence of hair development (universal congenital alopecia). We have analyzed individuals of this family, using >175 microsatellite polymorphic markers of the human genome. A maximum LOD score of 7.90 at a recombination fraction of 0 has been obtained with locus D8S258. Haplotype analysis of recombination events localized the disease to a 15-cM region between marker loci D8S261 and D8S1771. We have thus mapped the gene for this hereditary form of isolated congenital alopecia to a locus on chromosome 8p21-22 (ALUNC [alopecia universalis congenitalis]). This will aid future identification of the responsible gene, which will be extremely useful for the understanding of the biochemistry of hair development.
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