X-linked mental retardation: evidence for a recent mutation in a five-generation family (MRX65) linked to the pericentromeric region.

doi:10.1002/(sici)1096-8628(19990730)85:3<305::aid-ajmg22>3.0.co;2-5

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Article

X-linked mental retardation: evidence for a recent mutation in a five-generation family (MRX65) linked to the pericentromeric region.

American journal of medical genetics - 30 Jul 1999

Yntema H G, van den Helm B, Knoers N V, Smits A P, van Roosmalen T, Smeets D F, Mariman E C, van der Burgt I, van Bokhoven H, Ropers H H, Kremer H, Hamel B C

Abstract excerpt

We report linkage analysis in a new family with nonspecific X-linked mental retardation, using 27 polymorphic markers covering the entire X-chromosome. We could assign the underlying disease gene, denoted MRX65, to the pericentromeric region, with flanking markers DXS573 in Xp11.3 and DXS990 in Xq21.33. A maximum LOD score of 3.64 was found at markers ALAS2 (Xp11.22) and DXS453 (Xq12) at straight theta = 0....

Topics

Adult
Body Weights and Measures
Centromere
Child
DNA
Family Health
Female
Genetic Linkage
Humans
Intellectual Disability
Lod Score

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Male

Microsatellite Repeats

Middle Aged

Mutation

Pedigree

Psychiatric Status Rating Scales

Psychometrics

Source

Open in PubMed

Identifiers

PMID: 10398247
DOI: 10.1002/(sici)1096-8628(19990730)85:3<305::aid-ajmg22>3.0.co;2-5

Genes

ALAS2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026.

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