A locus for hereditary hypotrichosis localized to human chromosome 18q21.1.

Abstract

Hereditary hypotrichosis is a rare autosomal recessive condition characterized clinically by alopecia. Three consanguineous kindreds with multiple affected individuals were ascertained from different regions of Pakistan. A novel hypotrichosis locus was mapped to a 5.5 cM region on chromosome 18q21.1. A maximum two-point LOD score of 5.25 was obtained at marker D18S36 (theta=0.0). Three genes each for desmoglein and desmocollin proteins are located in this region. The expression in epidermal desmosomes and their connection to the keratin intermediate filaments make these genes excellent candidates for recessive hypotrichosis.

• Authors: Muhammad Arshad Rafique, Muhammad Ansar, Syed Muhammad Jamal, Sajid Malik, Muhammad Sohail, Mohammad Faiyaz-Ul-Haque, Sayedul Haque, Suzanne M Leal, Wasim Ahmad
• Journal: European journal of human genetics : EJHG (Eur J Hum Genet) Vol. 11 Issue 8 Pg. 623-8 (Aug 2003) ISSN: 1018-4813 [Print] England
• PMID: 12891384 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't)

Chemical References

• Genetic Markers

Topics

• Chromosome Mapping
• Chromosomes, Human, Pair 18
• Consanguinity
• Female
• Genes, Recessive
• Genetic Linkage
• Genetic Markers
• Humans
• Hypotrichosis (genetics)
• Lod Score
• Male
• Pedigree