A locus for hereditary hypotrichosis localized to human chromosome 18q21.1.
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.
Rafique
Muhammad Arshad
MA
Department of Biological Sciences, Quaid-I-Azam University, Islamabad, Pakistan.
Ansar
Muhammad
M
Jamal
Syed Muhammad
SM
Malik
Sajid
S
Sohail
Muhammad
M
Faiyaz-Ul-Haque
Mohammad
M
Haque
Sayedul
S
Leal
Suzanne M
SM
Ahmad
Wasim
W
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
D005819:Genetic Markers