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We have isolated 23 human X chromosome-specific DNA fragments from lambda libraries, prepared from flow-sorted X chromosomes. To increase diagnostic potential for X-linked genetic disorders, including Duchenne muscular dystrophy (DMD), the fragments were tested for restriction fragment length polymorphisms (RFLPs) with six restriction enzymes. All fragments were regionally mapped to segments of the X chromosome with a panel of somatic cell hybrids and with human cell lines carrying unbalanced chromosomal abnormalities. Two of the isolated probes detected a high frequency RFLP. One, 754, maps between Xp11.3 and Xp21 and detects a PstI polymorphism with an allele frequency of 0.38. The other, 782, maps between Xp22.2 and Xp22.3 and reveals an EcoRI polymorphism with an allele frequency of 0.40. According to a pilot linkage study of families at risk for Duchenne muscular dystrophy, 754 gives a maximum Lod score of 7.6 at a recombination fraction of 0.03. Probe 782 lies telomeric to DMD with a maximum Lod score of 2.2 at a recombination fraction of 0.17. Using our X-chromosomal probes and a set of autosomal probes, isolated and examined in an identical way, we found a significantly lower RFLP frequency for the X chromosome as compared to the autosomes.
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G J van Ommen, and
P L Pearson
December 1986,
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M H Hofker, and
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P L Pearson
June 1984,
Biochemical Society transactions,
M H Hofker, and
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P L Pearson
December 1986,
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M H Hofker, and
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June 1991,
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M H Hofker, and
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Chinese medical sciences journal = Chung-kuo i hsueh k'o hsueh tsa chih,
M H Hofker, and
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Genome,
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M H Hofker, and
M C Wapenaar, and
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G J van Ommen, and
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May 1982,
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M H Hofker, and
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P L Pearson
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M H Hofker, and
M C Wapenaar, and
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G J van Ommen, and
P L Pearson
January 1984,
Human genetics,
