title: 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.affiliation: Department of Biological Sciences, Quaid-I-Azam University, Islamabad, Pakistan.
authors.forename: Muhammad Arshad
authors.initials: MA
authors.lastname: Rafique
authors.forename: Muhammad
authors.initials: M
authors.lastname: Ansar
authors.forename: Syed Muhammad
authors.initials: SM
authors.lastname: Jamal
authors.forename: Sajid
authors.initials: S
authors.lastname: Malik
authors.forename: Muhammad
authors.initials: M
authors.lastname: Sohail
authors.forename: Mohammad
authors.initials: M
authors.lastname: Faiyaz-Ul-Haque
authors.forename: Sayedul
authors.initials: S
authors.lastname: Haque
authors.forename: Suzanne M
authors.initials: SM
authors.lastname: Leal
authors.forename: Wasim
authors.initials: W
authors.lastname: Ahmad
mesh_terms: D002874:Chromosome Mapping; D002887:Chromosomes, Human, Pair 18; D003241:Consanguinity; D005260:Female; D005808:Genes, Recessive; D008040:Genetic Linkage; D005819:Genetic Markers; D006801:Humans; D007039:Hypotrichosis / Q000235:genetics*; D008126:Lod Score; D008297:Male; D010375:Pedigree
chemical_list: D005819:Genetic Markers