PRENATAL DIAGNOSIS AND CARRIER DETECTION OF DUCHENNE MUSCULAR DYSTROPHY WITH CLOSELY LINKED RFLPs

Bakker, Egbert; Goor, Nicole; Wrogemann, Klaus; Kunkel, Louis M.; Fenton, Wayne A.; Majoor‐Krakauer, Danielle; Jahoda, M. G. J.; Ommen, G.J.B. van; Hofker, Marten H.; Mandel, J.L.; Davies, Kay E.; Willard, H.F.; Sandkuyl, L. A.; Essen, A.J. van; Sachs, E. S.; Pearson, P. L.

doi:10.1016/s0140-6736(85)91325-x

Cited by 216 publications

(32 citation statements)

References 14 publications

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“…Among the probes in this study, the frequency of heterozygosity among the Japanese females was high enough to use for linkage analysis with 782, 99-6, pERT87-15, pERT87-8, pERT87-1, XJI.1, XJ5.1, 754-11, and L1.28. These probes are mapped on loci from Xp222-223 (782) to Xp113 (L1.28) on the short arm of X chromosome (Bakker et al, 1985). The loci of some inherited diseases have been identified in this region; adrenal hyperplasia (White et al, 1984), glycerol kinase deficiency (Wieringa et al, 1985), Duchenne and Becker muscular dystrophies (Burghes et al, 1987;Monaco et al, 1986), chronic granulomatous disease (RoyerPokora et al, 1986) and ornithine transcarbamylase deficiency (Rozen et al, 1986).…”

Section: Resultsmentioning

confidence: 99%

“…by Southern blotting (Southern, 1975). Hybridization was performed with the nick translated DNA probe (final specific activity 1 x 10 s cpm/~g) using Amersham Nick Translation Kit (Amersham, Buckinghamshire, England) under the same condition as described by Bakker et al (1985). After hybridization, the filter was washed twice at 65~ in 2xSSC (20xSSC: 3M NaC1, 0.3~ sodium citrate) containing 0.1% sodium dodecyl sulfate (SDS) for 15 min, and twice at 65~ in 1 x SSC containing 0.1% SDS for 15 min.…”

Section: Methodsmentioning

confidence: 99%

“…It seems likely that frequencies of their RFLPs are different between human races. For inhabitants of North America and Europe, several data on X chromosome have been reported previously (Bakker et al, 1985;Drayna and White, 1985;Kunkel et al, 1986), but systematic survey of RFLPs has not been performed for the Japanese population up to the present except for a study on 40 DNA probes from various human chromosomes (Suzuki, A. et al, presented at Annual Meeting of the Japan Society of Human Genetics, 1987). Five of them showed no polymorphism, and the probe for 19pl3-cen revealed a pattern different from that reported among Caucasians.…”

Section: Introductionmentioning

confidence: 99%

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Restriction fragment length polymorphisms on the short arm of X chromosome among the Japanese population

1988

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SummaryRestriction fragment length polymorphisms were studied among the Japanese population using 13 polymorphic DNA probes on the short arm of X chromosome. The calculated molecular sizes of polymorphic bands for the probes 782, pXUT23 and 754 were larger than those in previous reports from North America and Europe, and their frequency distribution was markedly different for the probes C7, pERT87-8 and X J5.1. The probe pD2 did not show any polymorphism in the present study for the Japanese population. The genetic significance of these differences was discussed.

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Section: Resultsmentioning

confidence: 99%

Section: Methodsmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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Restriction fragment length polymorphisms on the short arm of X chromosome among the Japanese population

1988

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“…On the basis of remarkable progress in the field of molecular biology in the 1970s, a method of diagnosing DMD/BMD using DNA probes was established in 1985 (Bakker et al, 1985). Kunkel et al (1985) isolated pERT87 (DXS 164) DNA fragments from locus Xp21, which is deleted in males with DMD ( Fig.…”

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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“…Only a few decades have passed since Kan and Dozy (1 ) described the first DNA test, which used a restriction enzyme digestion to test for sickle cell disease, and my group (2 ) reported the first use of linked DNA markers for first-trimester prenatal diagnosis of Duchenne muscular dystrophy. Since then, molecular genetic testing with direct or indirect mutation detection has been widely applied to confirm the clinical diagnosis for many monogenetic disorders and to determine carrier status.…”

mentioning

confidence: 99%

Is the DNA Sequence the Gold Standard in Genetic Testing? Quality of Molecular Genetic Tests Assessed

Bakker

2006

Clinical Chemistry

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PRENATAL DIAGNOSIS AND CARRIER DETECTION OF DUCHENNE MUSCULAR DYSTROPHY WITH CLOSELY LINKED RFLPs

Cited by 216 publications

References 14 publications

Restriction fragment length polymorphisms on the short arm of X chromosome among the Japanese population

Restriction fragment length polymorphisms on the short arm of X chromosome among the Japanese population

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

Is the DNA Sequence the Gold Standard in Genetic Testing? Quality of Molecular Genetic Tests Assessed

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