Localization of a novel locus for alopecia with mental retardation syndrome to chromosome 3q26.33-q27.3.
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.
John
Peter
P
Department of Biological Sciences, Quaid-I-Azam University, Islamabad, Pakistan, wahmad@qau.edu.pk.
Ali
Ghazanfar
G
Chishti
Muhammad S
MS
Naqvi
Syed Muhammad S
SM
Leal
Suzanne M
SM
Ahmad
Wasim
W
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
D005819:Genetic Markers