1. Nonsyndromic X-linked mental retardation: mapping of MRX58 to the pericentromeric region
- Author
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Astrid Golla, Jan Murken, Kerry B. Jedele, Elke Holinski-Feder, Olaf Rittinger, Maria Gasteiger, Soheyla Chahrockh-Zadeh, and Claus Lenski
- Subjects
Male ,congenital, hereditary, and neonatal diseases and abnormalities ,X Chromosome ,Genetic Linkage ,Centromere ,Biology ,Genetic determinism ,Cytogenetics ,Gene mapping ,Genetic linkage ,Intellectual Disability ,medicine ,Humans ,CYBB ,Genetics (clinical) ,X chromosome ,Lod score ,Genetics ,Linkage (software) ,Family Health ,Chromosome Mapping ,medicine.disease ,Pedigree ,Developmental disorder ,Female ,Lod Score ,Microsatellite Repeats - Abstract
An Austrian family with nonsyndromic X-linked mental retardation (MRX) is reported in which the obligatory carrier females are normal, and 5 affected males have mild to moderate mental retardation. Linkage analysis indicated an X pericentromeric localization, with flanking markers DXS989 and DXS1111 and a maximum multipoint LOD score of 2.09 (θ = 0) for the 7 cosegregating markers DXS1243, CybB, MAOB, DXS988, ALAS2, DXS991, and AR. MRX58 thus mapped within a 50-cM interval between Xp11.3 and Xq13.1 and overlapped with 23 other MRX families already described. This pericentromeric clustering of MRX families suggests allelism, with a minimum of 2 X-linked mental retardation (XLMR) genes in this region. Am. J. Med. Genet. 86:102–106, 1999. © 1999 Wiley-Liss, Inc.
- Published
- 1999