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PMID: 2901224 Published · ppublish English Journal Article Research Support, Non-U.S. Gov't

Maternal duplication associated with gene deletion in sporadic hemophilia.

American journal of human genetics ·Vol. 43 ·No. 3 ·1988-09-00 ·Pages 274-9

Gitschier J

Abstract

Sporadic occurrences of X-linked disorders can give insights into mutagenesis in man. In a case of sporadic hemophilia, associated with a partial deletion of the factor VIII gene, an unexpected inheritance pattern of gene rearrangements was observed. The factor VIII gene was found to be partially duplicated in the hemophiliac's mother. A pedigree analysis indicates that the mother has contributed both aberrant genes as well as the normal gene to her offspring. One simple model for the evolution of the deletion in this family is that the duplication is the precursor to the deletion.

MeSH Terms
Chromosome Deletion Factor VIII/genetics Hemophilia A/genetics Humans Multigene Family Pedigree Polymorphism, Restriction Fragment Length
Chemicals
Factor VIII
Authors & Affiliations
1 authors, click to expand affiliations / ORCID
Gitschier J
Howard Hughes Medical Institute, University of California, San Francisco 94143-0724.
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22 references, click to expand
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Article Info
Journal
American journal of human genetics
Abbr.
Am J Hum Genet
ISSN
0002-9297
Published
1988-09-00
Pages
274-9
Language
English
Region
United States
NLM ID
0370475
PMCID
PMC1715375
Subset
IM
External Links
PubMed source PMC Full Text View journal details
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