Skewed X-chromosome inactivation in female carriers of dyskeratosis congenita
Journal Article
·
· American Journal of Human Genetics
OSTI ID:518542
- Univ. Hospital Gasthuisberg, Leuven (Belgium); and others
In this study, we report on a family with X-linked dyskeratosis congenita (DC). Linkage analysis with markers in the factor VIII gene at Xq28 yielded a LOD score of 2 at a recombination of 0. Clinical manifestations of DC, such as skin lesions following the Blaschko lines, were present in two obligate carrier females. Highly skewed X inactivation was observed in white blood cells, cultured skin fibroblasts, and buccal mucosa from female carriers of DC in this family. This suggests a critical role for the DC gene in bone marrow-cell and fibroblast-cell proliferation. 23 refs., 4 figs., 1 tab.
- OSTI ID:
- 518542
- Journal Information:
- American Journal of Human Genetics, Journal Name: American Journal of Human Genetics Journal Issue: 3 Vol. 60; ISSN AJHGAG; ISSN 0002-9297
- Country of Publication:
- United States
- Language:
- English
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·
Fri Jul 12 00:00:00 EDT 1996
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·
OSTI ID:476904
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Sun May 01 00:00:00 EDT 1994
· American Journal of Human Genetics; (United States)
·
OSTI ID:7160145
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Journal Article
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· American Journal of Human Genetics; (USA)
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Related Subjects
55 BIOLOGY AND MEDICINE
BASIC STUDIES
BIOLOGICAL MARKERS
BLOOD COAGULATION FACTORS
BONE MARROW CELLS
CELL PROLIFERATION
CHROMOSOMAL ABERRATIONS
ETIOLOGY
FEMALES
FIBROBLASTS
GENETIC MAPPING
GENETICS
HEREDITARY DISEASES
HUMAN X CHROMOSOME
NUCLEOTIDES
PATIENTS
POLYMERASE CHAIN REACTION
RFLPS
SKIN DISEASES
STATISTICS
BASIC STUDIES
BIOLOGICAL MARKERS
BLOOD COAGULATION FACTORS
BONE MARROW CELLS
CELL PROLIFERATION
CHROMOSOMAL ABERRATIONS
ETIOLOGY
FEMALES
FIBROBLASTS
GENETIC MAPPING
GENETICS
HEREDITARY DISEASES
HUMAN X CHROMOSOME
NUCLEOTIDES
PATIENTS
POLYMERASE CHAIN REACTION
RFLPS
SKIN DISEASES
STATISTICS