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Localisation of a New Gene for Non-specific Mental Retardation to Xq22-q26 (MRX35)

Overview
Journal J Med Genet
Specialty Genetics
Date 1996 Jan 1
PMID 8825049
Citations 8
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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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References
1.
Bundey S, Carter C . Recurrence risks in severe undiagnosed mental deficiency. J Ment Defic Res. 1974; 18(2):115-34. DOI: 10.1111/j.1365-2788.1974.tb01227.x. View

2.
Morton N . Sequential tests for the detection of linkage. Am J Hum Genet. 1955; 7(3):277-318. PMC: 1716611. View

3.
Miller S, Dykes D, Polesky H . A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res. 1988; 16(3):1215. PMC: 334765. DOI: 10.1093/nar/16.3.1215. View

4.
Arveiler B, Alembik Y, Hanauer A, Jacobs P, Tranebjaerg L, Mikkelsen M . Linkage analysis suggests at least two loci for X-linked non-specific mental retardation. Am J Med Genet. 1988; 30(1-2):473-83. DOI: 10.1002/ajmg.1320300150. View

5.
Suthers G, Turner G, Mulley J . A non-syndromal form of X-linked mental retardation (XLMR) is linked to DXS14. Am J Med Genet. 1988; 30(1-2):485-91. DOI: 10.1002/ajmg.1320300151. View