Refinement of a locus for Marie Unna hereditary hypotrichosis to a 1.1-cM interval at 8p21.3

Br J Dermatol. 2004 May;150(5):837-42. doi: 10.1111/j.1365-2133.2004.05913.x.

Abstract

Background: Marie Unna hereditary hypotrichosis (MUHH) is a rare autosomal congenital alopecia with progressive hair loss starting in early childhood and accelerating at puberty. A locus for MUHH has been mapped on chromosome 8p21 but no genes for MUHH have been identified to date.

Objectives: To refine the MUHH locus to a narrow chromosome region to facilitate cloning of the gene.

Methods: We performed genotyping and linkage analysis in a multigeneration Chinese family with MUHH, using 18 high-density microsatellite markers spanning the previously mapped interval at 8p21.

Results: Significant evidence for linkage was observed in this region, with a maximum two-point LOD score of 3.01 (theta = 0). Haplotype analysis localized the MUHH locus within the region defined by D8S282 and D8S1839. This region overlaps by 1.1-cM with the previously reported MUHH region and represents a physical distance of about 380 kb.

Conclusions: This study provides a refined map location (1.1 cM) for isolation of the gene causing MUHH. These data also indicate the existence of a common MUHH locus at 8p21.3 between affected caucasian and Chinese families.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Aged
  • Alopecia / genetics
  • Alopecia / pathology
  • Child
  • Chromosome Mapping
  • Chromosomes, Human, Pair 8 / genetics*
  • DNA Mutational Analysis
  • Disease Progression
  • Female
  • Genetic Linkage*
  • Genotype
  • Haplotypes
  • Humans
  • Hypotrichosis / congenital
  • Hypotrichosis / genetics*
  • Hypotrichosis / pathology
  • Lod Score
  • Male
  • Middle Aged
  • Pedigree