2. Academic Validation
  3. A gene for hypotrichosis simplex of the scalp maps to chromosome 6p21.3

A gene for hypotrichosis simplex of the scalp maps to chromosome 6p21.3

  • Am J Hum Genet. 2000 Jun;66(6):1979-83. doi: 10.1086/302934.
R C Betz 1,  Y A Lee,  A Bygum,  F Brandrup,  A I Bernal,  J Toribio,  J I Alvarez,  G M Kukuk,  H H Ibsen,  H B Rasmussen,  T F Wienker,  A Reis,  P Propping,  R Kruse,  S Cichon,  M M Nöthen
Affiliations

Affiliation

  • 1 Institute of Human Genetics, University of Bonn, D-53111 Bonn, Germany. r.betz@uni-bonn.de
PMID: 10793007 DOI: 10.1086/302934
Abstract

Hypotrichosis simplex of the scalp (HSS) is an autosomal dominant form of isolated alopecia causing almost complete loss of scalp hair, with onset in childhood. After exclusion of candidate regions previously associated with hair-loss disorders, we performed a genomewide linkage analysis in two Danish families and localized the gene to chromosome 6p21.3. This was confirmed in a Spanish family, with a total LOD score of 11.97 for marker D6S1701 in all families. The combined haplotype data identify a critical interval of 14.9 cM between markers D6S276 and D6S1607. Localization of the locus for HSS to 6p21.3 is a first step toward identification of the gene. The gene will give important insights into the molecular and cellular basis of hair growth on the scalp.

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