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PMID: 2876629 Published · ppublish English Comparative Study Journal Article Research Support, Non-U.S. Gov't

The X chromosome shows less genetic variation at restriction sites than the autosomes.

American journal of human genetics ·Vol. 39 ·No. 4 ·1986-10-00 ·Pages 438-51

Hofker MH, Skraastad MI, Bergen AA, Wapenaar MC, Bakker E, Millington-Ward A, van Ommen GJ, Pearson PL

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 TaqI, 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 = less than .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.

MeSH Terms
Chromosome Mapping DNA/genetics Enzymes/genetics Humans Polymorphism, Genetic Polymorphism, Restriction Fragment Length X Chromosome
Chemicals
Enzymes DNA
Authors & Affiliations
8 authors, click to expand affiliations / ORCID
Hofker M H
Skraastad M I
Bergen A A
Wapenaar M C
Bakker E
Millington-Ward A
van Ommen G J
Pearson P L
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Article Info
Journal
American journal of human genetics
Abbr.
Am J Hum Genet
ISSN
0002-9297
Published
1986-10-00
Pages
438-51
Language
English
Region
United States
NLM ID
0370475
PMCID
PMC1683972
Subset
IM
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