Martínez F, Gal A, Palau F, Prieto F
Unidad de Genética, Hospital Universitario La Fe, Valencia, Spain.
Am J Med Genet. 1995 Jan 30;55(3):387-90. doi: 10.1002/ajmg.1320550328.
Nonspecific X-linked mental retardation (MRX) includes several distinct genetic entities in which mental retardation is not associated with additional distinguishing physical changes. We report linkage data in a Spanish family with MRX, using polymorphic DNA markers distributed over the X chromosome. Two-point linkage analysis demonstrated close linkage between the MRX locus and DXS85 in Xp22.3 with a peak lod score of 2.28 at a theta = 0.00. Analysis of multiple informative meioses suggested a localization of the MRX locus (MRX24) between DXS278 and DXS207. Multipoint linkage analysis resulted in a maximum LOD score of 2.45 at 3 cM proximal to DXS85, and allowed us to reject a localization of the MRX24 gene in all other regions from Xp21-Xqter. These findings localize the MRX24 gene in the chromosomal region Xp22.2-p22.3.
非特异性X连锁智力迟钝(MRX)包括几个不同的遗传实体,其中智力迟钝与其他明显的身体变化无关。我们报告了一个患有MRX的西班牙家庭的连锁数据,使用分布在X染色体上的多态性DNA标记。两点连锁分析表明,MRX基因座与位于Xp22.3的DXS85紧密连锁,在θ = 0.00时最高lod分数为2.28。对多个信息性减数分裂的分析表明,MRX基因座(MRX24)位于DXS278和DXS207之间。多点连锁分析在距离DXS85近端3 cM处产生了最高lod分数2.45,并使我们能够排除MRX24基因在从Xp21到Xqter的所有其他区域中的定位。这些发现将MRX24基因定位在染色体区域Xp22.2 - p22.3。