Identification of duchenne muscular dystrophy genomic probe P20 constant Taq1 fragment corresponding to the EcoRV and Msp1 polymorphisms

Laing, Nigel G.; Walker, A. P.; Akkari, P. Anthony; Chandler, David; Layton, M.; Mears, Megan; Yamada, Tomoya; Bartlett, Richard J.; Pericak‐Vance, Margaret A.; Hung, Wu-Yen; Wapenaar, Martin C.; Ommen, Gert-Jan van; Roses, A. D.; Kakulas, B. A.

doi:10.1002/pd.1970110112

Cited by 2 publications

(1 citation statement)

References 14 publications

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“…The other highly promising approaches not tried here so far concern RNA amplification supplemented with MPCR analysis of cDNA (Roberts et al, 1990), family screening for P20/Taq 1 or /Msp 1 polymorphisms after deletion detection (Laing et al, 1991), and RFLP analysis of the highly polymorphic dinucleotide repeat sequences within the dystrophin gene (Clemens et al, 1991).…”

Section: Discussionmentioning

confidence: 99%

Dystrophin gene analysis and prenatal diagnosis of Duchenne muscular dystrophy in Russia

Baranov¹,

Gorbunova²,

Malysheva³

et al. 1993

Prenatal Diagnosis

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Of 126 families referred for counselling of Duchenne muscular dystrophy (DMD), DNA analysis has been suggested to 119 families with at least one affected child or with an affected close male relative of the woman at risk of being a DMD carrier. A large proportion (about 80 per cent) of the families were represented by sporadic cases (only one affected individual). By means of multiplex polymerase chain reactions with different sets of oligoprimers providing amplification of 10-11 different exons, altogether 49 dystrophin gene deletions were identified (41 per cent). Eighteen deletions clustered in the 5' 'hot spot' region of DMD cDNA and 36 in the distal half of the central rod domain around exons 43-53. An unusually high frequency (18 per cent) of deletions involving exons 17-19 was discovered. Large deletions extending through both 'hot spot' regions and thus occupying over 30-40 exons were recorded in five cases (10 per cent). Seventy-six of 94 families were found to be informative by RFLP analysis for intragenic or extragenetic DNA probes. Carrier status was ascertained in 20 and rejected in 32 female relatives in 40 DMD families. Eight DMD-affected fetuses were diagnosed prenatally by direct deletion testing or by RFLP analysis. Feasible interpopulation variations in the dystrophin gene deletion pattern are discussed. The prospects for more effective prenatal diagnosis and carrier detection in high-risk DMD families in Russia are briefly outlined.

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Section: Discussionmentioning

confidence: 99%

Dystrophin gene analysis and prenatal diagnosis of Duchenne muscular dystrophy in Russia

Baranov¹,

Gorbunova²,

Malysheva³

et al. 1993

Prenatal Diagnosis

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A TaqI map of the dystrophin gene useful for deletion and carrier status analysis.

Walker

Laing

Yamada

et al. 1992

Journal of Medical Genetics

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We describe a partial TaqI map of the dystrophin gene, obtained mainly by analysis of 87 overlapping DMD/BMD deletions with small fragments of the dystrophin cDNA probes; exon 6 of the dystrophin gene was identified on the TaqI map using the polymerase chain reaction. The cDNA probes detect five polymorphisms with TaqI, more than with HindIII (one), BgAlI (four), or Psd (three). The five polymorphisms are analysed concomitant with screening for deletions on the TaqI map, and in the onethird of DMD/BMD cases with no detected deletion the polymorphism information may be used for counselling. Correlation of the TaqI map with the HindIII map in the region of probes 5b-7 and 8 has allowed the establishment of reading frame. In this region of the dystrophin gene, all of 41 DMD deletions resulted in a shift of reading frame and all of 10 BMD patients maintained reading frame, in agreement with the 'reading frame hypothesis'.

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Identification of duchenne muscular dystrophy genomic probe P20 constant Taq1 fragment corresponding to the EcoRV and Msp1 polymorphisms

Cited by 2 publications

References 14 publications

Dystrophin gene analysis and prenatal diagnosis of Duchenne muscular dystrophy in Russia

Dystrophin gene analysis and prenatal diagnosis of Duchenne muscular dystrophy in Russia

A TaqI map of the dystrophin gene useful for deletion and carrier status analysis.

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