THE X-CHROMOSOME SHOWS LESS GENETIC-VARIATION AT RESTRICTION SITES THAN THE AUTOSOMES
- 1 October 1986
- journal article
- research article
- Vol. 39 (4) , 438-451
Abstract
Using a standard technique, 122 single-copy probes were screened for their ability to detect restriction fragment length polymorphisms (RFLPs) in the human genome. The use of a standardized RFLP screening enables the introduction of statistical methods in the analysis of differences in RFLP content between chromosomes and enzymes. RFLPs were detected from panels containing at least 17 unrelated chromosomes, digested with Taq1, MspI, BglII, HindIII, EcoRI, and PstI. Forty autosomal probes, representing a sample of 2,710 base pairs (bp) per haploid genome, were tested, and 24 RFLPs were found. With 82 X-chromosomal probes, 17 RFLPs were found in 6,228 bp per haploid genome. The frequency of X-chromosomal RFLPs is three times less than that of the autosomes; this difference is highly significant (P = < .001). The frequency of RFLPs revealed by various restriction enzymes and the possibility that the X chromosome is a "low mutation" niche in the human genome are discussed.This publication has 23 references indexed in Scilit:
- Isolation of probes detecting restriction fragment length polymorphisms from X chromosome-specific libraries: potential use for diagnosis of Duchenne muscular dystrophyHuman Genetics, 1985
- An estimate of unique DNA sequence heterozygosity in the human genomeHuman Genetics, 1985
- DNA restriction fragment length polymorphisms and heterozygosity in the human genomeHuman Genetics, 1984
- Restriction sites containing CpG show a higher frequency of polymorphism in human DNACell, 1984
- Separation and analysis of human chromosomes by combined velocity sedimentation and flow sorting applying single‐ and dual‐laser flow cytometryCytometry, 1984
- Strategies for detecting and characterizing restriction fragment length polymorphisms (RFLP's)Cytogenetic and Genome Research, 1982
- Cloning of a representative genomic library of the human X chromosome after sorting by flow cytometryNature, 1981
- DNA sequence variants in the Gγ-, Aγ-, δ- and β-globin genes of manCell, 1979
- Molecular basis of base substitution hotspots in Escherichia coliNature, 1978
- Ancient Linkage Groups and Frozen AccidentsNature, 1973