| The thesis contains two main pieces of work. In the first one, we studied Chinese . QinBa mountain areas male children with nonspecific X-linked mental retardation (NS-XLMR) to search for a region (Xql2-Xq22.3) that was linked to the microsatellite markers using association analysis based on the case-contral population subjects. In another piece of work, we studied the difference between the performance intelligence quotient and verbal intelligence quotient of the nonspecific X-linked mental retardation individuals.Mental retardation (MR) can be defined as a failure to develop cogonitive abilities and achieve a level of intelligence that would be appropriate for the age group. A percentage of the general population, variably estimated between 0.5 and 2%, was reported to be functioning two standard deviations, below the average (ie to have an IQ of less than 70). Genetic determinants underlie many of these conditions and mental retardation occurs significantly more often in males than in famales, especially in the mild to moderate MR range (IQ between 70 and 35). This phenomenon was eventually interpreted as being due to X-linked mutations. In this work, we have first mapped the microsatellite markers locus for NS-XLMR onto chromosomeXq12 - q23.3 using the QinBa mountain areas male children case-contral population subjects (63 MR and 196 normal children). The study results have shownthe strong positive association between NS-XLMR and five microsatellite markers, they were DXS7132> DXS1191* DXS1230, DXS1072 and DXS6804. The second study of the difference between the performance intelligence quotient and verbal intelligence quotient of NS-XLMR children has shown the former has more damaged than the latter.Hence, our data support the hypothesis that there are several important candidate genes locus on a specific region (Xql2-Xq22.3) of chromosomeX for explaining NS-XLMR in the Chinese QinBa mountain areas male children population.
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