Literature DB >> 8825049

Localisation of a new gene for non-specific mental retardation to Xq22-q26 (MRX35).

X X Gu1, R Decorte, P Marynen, J P Fryns, J J Cassiman, P Raeymaekers.   

Abstract

Non-specific mental retardation (MR) is a condition in which MR appears to be the only consistent manifestation. The X linked form (MRX) is genetically heterogeneous. We report clinical, cytogenetic, and linkage data on a family with X linked non-specific MR. Two point and multi-point linkage analysis with 18 polymorphic markers, covering the entire chromosome, showed close linkage to DXS1001 and DXS425 with a maximal lod score of 2.41 at 0% recombination. DXS178 and the gene for hypoxanthine phosphoribosyl-transferase (HPRT), located in Xq22 and Xq26 respectively, flank the mutation. All other chromosomal regions could be excluded with odds of at least 100:1. To our knowledge there is currently no other non-specific MR gene mapped to this region. Therefore, the gene causing MR in this family can be considered to be a new, independent MRX locus (MRX35).

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Year:  1996        PMID： 8825049      PMCID： PMC1051812          DOI： 10.1136/jmg.33.1.52

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


  28 in total

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  8 in total

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