title: Localization of a novel locus for alopecia with mental retardation syndrome to chromosome 3q26.33-q27.3.
abstract: Alopecia with mental retardation syndrome is a rare autosomal recessive disorder characterized clinically by total or partial alopecia and mental retardation. In an effort to understand the molecular bases of this form of alopecia syndrome, large Pakistani consanguineous kindred with multiple affected individuals has been ascertained from a remote region in Pakistan. Genome wide scan mapped the disease locus on chromosome 3q26.33-q27.3. A maximum two-point LOD score of 3.05 (theta = 0.0) was obtained at marker D3S3583. Maximum multipoint LOD score exceeding 5.0, obtained with several markers, supported the linkage. Recombination events observed in affected individuals localized the disease locus between markers D3S1232 and D3S2436, spanning 11.49-cM region on chromosome 3q26.33-q27.3. Sequence analysis of a candidate gene ETS variant gene 5 from DNA samples of two affected individuals of the family revealed no mutation.
authors.affiliation: Department of Biological Sciences, Quaid-I-Azam University, Islamabad, Pakistan, wahmad@qau.edu.pk.
authors.forename: Peter
authors.initials: P
authors.lastname: John
authors.forename: Ghazanfar
authors.initials: G
authors.lastname: Ali
authors.forename: Muhammad S
authors.initials: MS
authors.lastname: Chishti
authors.forename: Syed Muhammad S
authors.initials: SM
authors.lastname: Naqvi
authors.forename: Suzanne M
authors.initials: SM
authors.lastname: Leal
authors.forename: Wasim
authors.initials: W
authors.lastname: Ahmad
mesh_terms: D000505:Alopecia / Q000235:genetics*; D002874:Chromosome Mapping; D002893:Chromosomes, Human, Pair 3; D005260:Female; D008040:Genetic Linkage; D005819:Genetic Markers; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D008297:Male; D010375:Pedigree
chemical_list: D005819:Genetic Markers