Dinucleotide repeat polymorphism in the proteolipoprotein (PLP) gene

Mimault, C; Cailloux, Fabrice; Giraud, G; Dastugue, B.; Boespflug‐Tanguy, Odile

doi:10.1007/bf00207388

Cited by 16 publications

(15 citation statements)

References 2 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…29 -31 Four highly polymorphic dinucleotide repeat markers across the duplicated region, (DXS1106, DXS8096, CA-PLP, and DXS1191) were selected for haplotyping analysis in all patients. [32][33][34] Genomic DNA was amplified by PCR with fluorescence-labeled 2Ј-deoxy-uridine-5Јtriphosphate (dUTP) for each marker locus and analyzed using an ABI 377 automated sequencer and Genescan software (Applied Biosystems, Foster City, CA).…”

Section: Haplotyping Analysis Using Single Nucleotide Polymorphisms Amentioning

confidence: 99%

Proteolipid protein gene duplications causing Pelizaeus-Merzbacher disease: Molecular mechanism and phenotypic manifestations

et al. 1999

View full text Add to dashboard Cite

Pelizaeus‐Merzbacher disease (PMD) is an X‐linked disorder characterized by dysmyelination of the central nervous system (CNS) caused by mutations involving the proteolipid protein gene (PLP). In addition to point and frameshift mutations in the coding region, duplications involving the entire PLP have been recognized recently as a major genetic abnormality causing PMD. We devised an interphase fluorescence in situ hybridization (FISH) assay to establish an efficient screening test for PLP duplication. Thirteen patients from 11 Japanese PMD families were determined to have PLP duplications. This molecular diagnostic FISH test also readily detected female carriers. Molecular analysis revealed that the size of the duplication and location of the breakpoints showed striking variation. Fiber FISH demonstrated that the duplication is tandem in nature. Haplotype analysis indicated an intrachromosomal origin for the duplication. These results suggest that an unequal sister chromatid exchange in male meiosis is likely to be the major mechanism leading to the formation of the duplication. Patients with the duplication commonly present with a mild PMD phenotype. Two patients with an exceptionally severe clinical phenotype carried large duplications, suggesting that either the larger duplicated segment incorporates additional dosage‐sensitive genes or that the location of the duplication junction may affect the phenotype. Ann Neurol 1999;45:624–632

show abstract

Section: Haplotyping Analysis Using Single Nucleotide Polymorphisms Amentioning

confidence: 99%

Proteolipid protein gene duplications causing Pelizaeus-Merzbacher disease: Molecular mechanism and phenotypic manifestations

et al. 1999

View full text Add to dashboard Cite

show abstract

“…In addition, mutations in PLP1 are known to cause complicated and pure forms of spastic paraplegia (SPG2). The new MspI polymorphism, together with the previously reported microsatellite repeat polymorphism in intron 1 (Mimault et al, 1995) and the AhaII (BsaHI) polymorphism in exon 4, will be useful for linkage analysis in families where molecular diagnosis is not made.…”

Section: Discussionmentioning

confidence: 99%

A new polymorphism in the proteolipid protein (PLP1) gene and its use for carrier detection ofPLP1 gene duplication in Pelizaeus-Merzbacher disease

et al. 2001

View full text Add to dashboard Cite

“…A PLP1 ‐intragenic microsatellite (CA‐ PLP1 ) [Mimault et al, 1995] and five known flanking extragenic microsatellites, DXS 101, DXS 178, DXS 1106, DXS 8096, DXS 1191 [Dib et al, 1996] were used. Amplifications were performed with one fluorescently labeled primer in each set in a Gene Amp PCR System 9600 (Applera) according to standard procedure [Mimault et al, 1995]. Fragment analysis was performed on an ABI 377 automated sequencer with the Genescan and Genotyper softwares.…”

Section: Methodsmentioning

confidence: 99%

De novo interstitial direct duplication of Xq21.1q25 associated with skewed X‐inactivation pattern

Tachdjian

Aboura

Benkhalifa

et al. 2004

American J of Med Genetics Pt A

View full text Add to dashboard Cite

Genotype-phenotype correlation in women with an abnormal phenotype associated with a duplication of the long arm of the X chromosome remains unclear. We report on prenatal diagnosis and follow-up of a girl with an Xq duplication and dysmorphic features. The abnormal phenotype included growth retardation, hypotonia, and nystagmus. In order to improve the resolution of the cytogenetic analysis, we used both conventional and array-based comparative genomic hybridization to perform a global molecular cytogenetic analysis of the genome. These molecular cytogenetic analyses showed a direct duplication Xq21.1 --> q25 without other chromosomal abnormalities. This duplication was originating from the paternal X chromosome. Moreover, a skewed X-inactivation pattern was observed leading to a partial functional disomy of the chromosomal region Xq21.1q25. This report and review of the literature suggest that functional disomy for chromosome X could explain the abnormal phenotype. In prenatal diagnosis, this can have implication for patient management and genetic counseling.

show abstract

Dinucleotide repeat polymorphism in the proteolipoprotein (PLP) gene

Cited by 16 publications

References 2 publications

Proteolipid protein gene duplications causing Pelizaeus-Merzbacher disease: Molecular mechanism and phenotypic manifestations

Proteolipid protein gene duplications causing Pelizaeus-Merzbacher disease: Molecular mechanism and phenotypic manifestations

A new polymorphism in the proteolipid protein (PLP1) gene and its use for carrier detection ofPLP1 gene duplication in Pelizaeus-Merzbacher disease

De novo interstitial direct duplication of Xq21.1q25 associated with skewed X‐inactivation pattern

Contact Info

Product

Resources

About