Gene-deletion and carrier detections, and prenatal diagnosis of Duchenne muscular dystrophy by analysis of the dystrophin gene amplified by polymerase chain reaction

Fujishita, Satoshi; Shibuya, Noritoshi; Niikawa, Norio; Nagataki, Shigenobu

doi:10.1007/bf01883605

Cited by 4 publications

(3 citation statements)

References 14 publications

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“…The allele frequencies in the pERT87 locus detected with three combinations of primer and enzyme sets were well comparable to those previously reported for Japanese and Chinese females (Akita et al, 1987;Shimmoto et al, 1988;Sugino et aL, 1989;Fujishita et aL, 1991;Soong et aL, 1991). However, they were quite different from those in the Caucasian, Spanish, Indian and black populations (Kunkel et al, 1985(Kunkel et al, , 1986Lindlof et aL, 1987;Schwartz and Barjon, 1987;Roberts et al, 1989;Gokgoz et aI., 1993;A1-Maghtheh et al, 1993).…”

Section: Discussionsupporting

confidence: 89%

Allele frequencies of intragenic, and 5′ and 3′ markers of the dystrophin gene in Japanese families afflicted with Duchenne or Becker muscular dystrophy

et al. 1996

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SummaryUsing the polymerase chain reaction method (PCR), we examined the allele frequencies and heterozygosities of 7 polymorphic sites (pERT87, and CA polymorphisms in the 5' and 3' regions) of the dystrophin gene in 20 Japanese Duchenne muscular dystrophy and Becker muscular dystrophy (DMD or BMD) families consisting of 36 males, including 23 cases of DMD and BMD, and 28 females. The allele frequencies of three primer and enzyme sets in the pERT87 locus were well comparable to those in the previously reported Japanese female cases but different from in other countries. The frequencies of 5' markers of the dystrophin gene in Japanese were different from the reported Caucasian frequencies. As for 5'DYS-I and 5'DYS-II, the numbers of alleles in our cases were less than in Caucasians, and the heterozygosities of all three markers (5'DYS-I, II and IiI) were lower than in Caucasians. However, the 3'CA polymorphisms showed almost the same frequencies and heterozygosities as in Caucasians. All of our females showed a heterozygous pattern for at least one locus, with the combination of the seven markers. The usefulness of linkage analysis involving PCR methods with these intragenic, and 5' and 3' markers of the dystrophin gene in the carrier and prenatal diagnosis of DMD and BMD was confirmed by the successful prenatal diagnoses in 15 fetuses, the exception being one case considered to have a new mutation.

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Section: Discussionsupporting

confidence: 89%

Allele frequencies of intragenic, and 5′ and 3′ markers of the dystrophin gene in Japanese families afflicted with Duchenne or Becker muscular dystrophy

et al. 1996

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“…This rate was increased to 98 ~ when the number of regions amplified was expanded to 19 exons (Beggs et al, 1990). Fujishita et aL (1991) reported that 26 (92~) of 28 deletions observed with Southern analysis were detected by PCR using only seven primer sets. Our study also showed a high detection rate that was almost consistent with these results.…”

Section: Discussionmentioning

confidence: 98%

Deletion detection for diagnosis of Duchenne muscular dystrophy in the Japanese population—Comparisom between the polymerase chain reaction and the Southern blot analysis

et al. 1993

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SummaryWe compared the efficacy of the multiplex PCR with that of the cDNA analysis for detection of deletions of the DMD gene in the Japanese patients. Thirty males with DMD from 27 Japanese families were studied by the multiplex PCR, and 24 of them were also investigated by Southern blot analysis. We used five dystrophin cDNA probes for deletion analysis. A total of 19 regions were amplified by the PCR to detect deletions, 9 regions by the method of Chamberlain et al. and another 10 regions by the method of Beggs et al. Deletions were detected in 14 (52~) out of 27 DMD families by the PCR. Southern blot analysis detected deletions in 14 (64~) out of 22 families. Thirteen (93~) of the 14 DMD families with deletions detected by Southern blotting were also confirmed by the multiplex PCR. Provided care is taken in cases where the deletion is limited to a single exon, the multiplex PCR appears to be an efficient and useful alternative to conventional Southern blot analysis for detecting deletions during the prenatal and postnatal diagnosis of DMD.

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“…The recombination rate is 4 %. Fujishita et al (1991) [24] reported that the recombination between pERT 87-8 locus (against cDNA 2b-3) and 3' end portion of the gene was found in 4 of 36 members in Japanese. and with a fraction of 11%.…”

Section: Methodsmentioning

confidence: 99%

Structural analysis of DMD gene and its clinical application in Chinese.I.Bgl II exon-containing fragment, RFLP and carrier detection

et al. 1994

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This article is one of the serial studies on the characteristics of the molecular structure for dystrophin gene in Chinese. By using the entire dystrophin cDNA (14 kb) as a probe, the number and RFLPs of Bgl II exon-containing fragments of the dystrophin gene were analysed. Four new Bgl II fragments were found, two of them (3.7 and 6.2 kb) detected by comparing the hybridization patterns with cDNA1-2a, la and 2a, one (9.3 kb) from the hybridization pattern with cDNA 9 by lengthening migrating distance of DNA fragments in electrophoresis , and another one (4.0 kb) by comparing the patterns with cDNA 11-14, 11a, 11b, 11c-12a and 14. The results indicated that the number of Bgl II exon-containing fragments should be 59 rather than 55 reported previously, which laid the foundation of the Bgl II partial restriction map for dystrophin gene. Three of the four RFLPs found in Caucacian appear in the hybridization patterns of three subclones, i.e. cDNA 2b-3, cDNA 4-5, and cDNA 5b-7.The values of expected heterozygote frequency (EHF) were 0.33, 0.33 and 0.40, and the observed heterozygote frequency (OHF) were 0.40, 0.40 and 0.48 respectively. Meanwhile, two new rare allelic fragments (15 kb) were found in RFLPs from Bgl II/2b-3 and Bgl II/4-5a patterns respectively. These Bgl II RFLPs and four XbaI RFLPs documented in our laboratory have been used to detect the carrier in 7 DMD

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Gene-deletion and carrier detections, and prenatal diagnosis of Duchenne muscular dystrophy by analysis of the dystrophin gene amplified by polymerase chain reaction

Cited by 4 publications

References 14 publications

Allele frequencies of intragenic, and 5′ and 3′ markers of the dystrophin gene in Japanese families afflicted with Duchenne or Becker muscular dystrophy

Allele frequencies of intragenic, and 5′ and 3′ markers of the dystrophin gene in Japanese families afflicted with Duchenne or Becker muscular dystrophy

Deletion detection for diagnosis of Duchenne muscular dystrophy in the Japanese population—Comparisom between the polymerase chain reaction and the Southern blot analysis

Structural analysis of DMD gene and its clinical application in Chinese.I.Bgl II exon-containing fragment, RFLP and carrier detection

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