Selection against lethal alleles in females heterozygous for incontinentia pigmenti

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 methyl...

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Bibliographic Details
Published in:American journal of human genetics 1989, Vol.44 (1), p.100-106
Main Authors: MIGEON, B. R, AXELMAN, J, DE BEUR, S. J, VALLE, D, MITCHELL, G. A, ROSENBAUM, K. N
Format: Article
Language:English
Subjects:
Adolescent
Adult
Biological and medical sciences
Child, Preschool
Dermatology
DNA Probes
Female
Genes, Lethal
Genetic Markers
Glucosephosphate Dehydrogenase - genetics
Hereditary diseases of the skin. Congenital diseases of the skin. Haemangioma of the skin, of mucosae and of soft tissue
Heterozygote
Humans
Incontinentia Pigmenti - genetics
Infant
Male
Medical sciences
Middle Aged
Pedigree
Phenotype
Pigmentation Disorders - genetics
Polymorphism, Restriction Fragment Length
Selection, Genetic
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Summary: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.
ISSN:0002-9297
1537-6605