DNA length polymorphism located 5' to the human myelin basic protein gene

K. B. Boylan, N. Takahashi, M. Diamond, L. E. Hood, S. B. Prusiner

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14 Scopus citations

Abstract

A region of DNA 5' to the human myelin basic protein (MBP) gene, located on the long arm of chromosome 18, is a site of restriction-fragment-length polymorphism (RFLP) showing 37% heterozygosity in 40 subjects studied. Southern transfer analysis using a 0.9-kb genomic fragment encompassing the first exon of the human MBP gene reveals this polymorphism with at least nine restriction enzymes, indicating that insertion, deletion, or both is the basis for the DNA length variation. Double restriction-enzyme digest analysis suggests that this polymorphism is within the region 0.5-2.0 kb upstream of the coding region of the first exon of the human MBP gene. Eleven different allelic RFLPs were identified, differing in size by as many as 450 bp. The distribution of insertion/deletion-size variants from this region is bimodal, with most restriction fragments varying in size over a 0.1-kb range. Pedigree analysis of polymorphism at this site in one three-generation family shows Mendelian assortment of parental haplotypes. The form and frequency of polymorphism generated by this site is similar to that reported for human DNA regions comprised of homologous short tandem repeats.

Original languageEnglish (US)
Pages (from-to)387-400
Number of pages14
JournalAmerican Journal of Human Genetics
Volume40
Issue number5
StatePublished - Sep 2 1987

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ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Cite this

Boylan, K. B., Takahashi, N., Diamond, M., Hood, L. E., & Prusiner, S. B. (1987). DNA length polymorphism located 5' to the human myelin basic protein gene. American Journal of Human Genetics, 40(5), 387-400.