[Gene mapping in 14 families with X-linked nonspecific mental retardation]
Magdalena Nawara1, Marta Jurek, Jerzy Bal
1Zakład Genetyki Medycznej, Instytut Matki i Dziecka, ul. Kasprzaka 17a, 01-211 Warszawa. magdalena.nawara@imid.med.pl
Unlabelled:
Mental retardation affects 2-3% of the population. The identification of nonspecific X-linked mental retardation genes represents a challenge of considerable medical and scientific importance.
Aim:
An attempt to identify new genes and mutations in known genes in 14 families with nonspecific X-linked mental retardation.
Material And Methods:
Linkage analysis with microsatellite markers was performed in 14 families with mental retardation segregating as an X-linked feature. Significant lod score (> 2) was obtained only for 2 families, due to insufficient number of analyzed families' members. Known MRX genes located in the linkage intervals were analysed.
Results:
Analysis of selected known MRX genes enabled identification of pathogenic mutations in 3 out of 14 families. Sequencing of further candidate genes is in progress. In all families the critical region and the number of genes to analyze was significantly narrowed.
Conclusions:
Linkage analysis in families with mental retardation segregating as an X-linked feature is still a considerable approach leading to identification of new genes, and mutations in known genes. It is a first step of identification of disease background, even in small families with lod score < 2.
More Related Videos
08:22A Robust Polymerase Chain Reaction-based Assay for Quantifying Cytosine-guanine-guanine Trinucleotide Repeats in Fragile X Mental Retardation-1 Gene
Published on: September 16, 2019
05:51A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia
Published on: June 15, 2011
Related Concept Videos
Pedigree Analysis
Sex-linked Disorders
X-linked Traits
Karyotyping
Genomic Imprinting and Inheritance
The expression of some genes depends on which parent passed the gene to the offspring, through a phenomenon known as...
Incomplete Dominance
