Selection against lethal alleles in females heterozygous for incontinentia pigmenti

Barbara R Migeon, J. Axelman, Suzanne M Jan De Beur, David Valle, G. A. Mitchell, K. N. Rosenbaum

Research output: Contribution to journalArticle

Abstract

Studies of five heterozygous females from three kindreds segregating incontinentia pigmenti indicate that cells expressing the mutation have been eliminated from skin fibroblast cultures and in varying degrees from hematopoietic tissues. Clonal analysis was carried out using G6PD variants and methylation patterns at the HPRT locus. Our results confirm X linkage in these families and suggest that selection against cells expressing mutations that are lethal to males in utero may help ameliorate the deleterious phenotype in carrier females.

Original languageEnglish (US)
Pages (from-to)100-106
Number of pages7
JournalAmerican Journal of Human Genetics
Volume44
Issue number1
Publication statusPublished - 1989

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ASJC Scopus subject areas

  • Genetics

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