Specific cloning of DNA fragments absent from the DNA of a male patient with an X chromosome deletion.

Kunkel, Louis M.; Monaco, Anthony P.; Middlesworth, William; Ochs, Hans D.; Latt, Samuel A.

doi:10.1073/pnas.82.14.4778

Cited by 387 publications

(113 citation statements)

References 26 publications

(16 reference statements)

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“…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). The most characteristic difference was in the pERT87-8/TaqI site, which was positively detected in only 35% of our Japanese cases, but in 74% of Caucasians (Kunkel et al, 1986).…”

Section: Discussioncontrasting

confidence: 59%

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: Discussioncontrasting

confidence: 59%

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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“…Present methods to isolate marker sequences in the vicinity of the gene or even the gene of interest itself rely on the use of gene libraries of the whole human genome or sorted individual chromosomes [2]. In cases where patients with small deletions, including the gene of interest, are known, phenol-enhanced reassociation kinetics between the patient's DNA and normal genomic DNA have been exploited to clone pieces of DNA from the deleted region [3]. Where such deletions are not available, microcloning of the chromosome region in question could be used.…”

mentioning

confidence: 99%

Microdissection of human chromosomes by a laser microbeam

Monajembashi

Cremer

et al. 1986

Experimental Cell Research

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“…Kunkel et al (1985) isolated pERT87 (DXS 164) DNA fragments from locus Xp21, which is deleted in males with DMD ( Fig. 1).…”

Section: Introductionmentioning

confidence: 99%

DNA analysis of Duchenne and Becker muscular dystrophy using pERT87 genomic probes and dystrophin cDNA probes

Ubagai

Katayama

1991

Jap J Human Genet

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SummaryDNA analysis was performed on 19 unrelated Duchenne muscular dystrophy (DMD) families and one Becker muscular dystrophy (BMD) family in Japan to determine their carrier status. The intragenic genomic probe pERT87 with its subclones 87-1, 87-8, and 87-15 were used together with five eDNA probes from the 5' end of the dystrophin gene.The tests With both a high polymorphism information content (P.I.C.) and a high observed P.LC. were most effective, i.e., pERT87-1/XmnI, pERT87-15/ XmnI, pERT87-8/TaqI, and pERT87-8/BstXI. These test combinations were useful in the Japanese population but pERT87-15/TaqI was not, although it was effective in Caucasians. Two additional test combinations of pERT87-1/MspI and pERT87-15/BamHI were highly useful in detecting restriction fragment length polymorphisms (RFLPs) when other tests were not informative. Carrier status could be determined in 18 out of 20 clients who were at risk for DMD/BMD carrier status from 20 families, similar to the rate of detection in Caucasians. The total detection rate of deletions was 74 ~ with the five eDNA probes. Deletions were concentrated on two hot spots where 92 ~ of all deletions were detected by only two probes, 1-2a and 8. Deletions were detected in two males with DMD who had none of the eight RFLPs tested. Our results emphasize the usefulness of DNA analysis with pERT87 genomic probes and cDNA probes. In addition, an optimum strategy for carrier detection in Japanese DMD/BMD families was proposed.

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Specific cloning of DNA fragments absent from the DNA of a male patient with an X chromosome deletion.

Cited by 387 publications

References 26 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

Microdissection of human chromosomes by a laser microbeam

DNA analysis of Duchenne and Becker muscular dystrophy using pERT87 genomic probes and dystrophin cDNA probes

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