John Peter, Ali Ghazanfar, Chishti Muhammad S, Naqvi Syed Muhammad S, Leal Suzanne M, Ahmad Wasim
Department of Biological Sciences, Quaid-I-Azam University, Islamabad, Pakistan,
Hum Genet. 2006 Jan;118(5):665-7. doi: 10.1007/s00439-005-0086-9. Epub 2005 Nov 5.
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.
脱发伴智力发育迟缓综合征是一种罕见的常染色体隐性疾病，临床特征为全秃或斑秃以及智力发育迟缓。为了了解这种脱发综合征的分子基础，已从巴基斯坦一个偏远地区确定了一个有多个患病个体的大型巴基斯坦近亲家族。全基因组扫描将疾病基因座定位在3号染色体q26.33 - q27.3区域。在标记D3S3583处获得了最大两点LOD分数3.05（θ = 0.0）。用几个标记获得的最大多点LOD分数超过5.0，支持了连锁关系。在患病个体中观察到的重组事件将疾病基因座定位在标记D3S1232和D3S2436之间，跨越3号染色体q26.33 - q27.3上11.49厘摩的区域。对该家族两名患病个体的DNA样本中的候选基因ETS变异基因5进行序列分析，未发现突变。
