Molecular and genealogical evidence for a founder effect in Fanconi anemia families of the Afrikaner population of South Africa.

Fanconi anemia (FA) is a rare, genetically heterogeneous autosomal recessive disorder associated with progressive aplastic anemia, congenital abnormalities, and cancer. FA has a very high incidence in the Afrikaner population of South Africa, possibly due to a founder effect. Previously we observed allelic association between polymorphic markers flanking the FA group A gene (FANCA) and disease chromosomes in Afrikaners.

Fanconi anemia. a statistical evaluation of cytogenetic results obtained from South African families.

Fanconi anemia (FA) is a rare autosomal recessive genetic disorder showing progressive bone marrow failure, and various phenotypic abnormalities. The lymphocytes show an increased sensitivity to the clastogenic agents diepoxybutane (DEB) or mytomycin C (MMC), measured as chromosomal aberrations. Statistical analysis of chromosome aberration yield showed that: (i) differentiation between obligate carriers and the control group was not possible; (ii) homozygotes were clearly distinguishable from heterozygotes as well as from controls by analyzing only 20 metaphase spreads per person; (iii) most of the FA patients had only one cell line present as measured by distribution of chromosomal damage among cells analyzed; (iv) and when the DEB sensitivity of a patient was high, the amount of cells without damage was low.

Association of complementation group and mutation type with clinical outcome in fanconi anemia. European Fanconi Anemia Research Group.

Fanconi anemia (FA) is a clinically and genetically heterogeneous disorder. Clinical care is complicated by variable age at onset and severity of hematologic symptoms. Recent advances in the molecular biology of FA have allowed us to investigate the relationship between FA genotype and the nature and severity of the clinical phenotype.

Novel mutations and polymorphisms in the Fanconi anemia group C gene.

Fanconi anemia (FA) is an autosomal recessive disorder associated with hypersensitivity to DNA cross-linking agents and bone marrow failure. At least four complementation groups have been defined, and the FA group C gene (FAC) has been cloned. We have screened 76 unrelated FA patients of diverse ethnic and geographic origins and from unknown complementation groups for mutations in the FAC gene either by chemical cleavage mismatch analysis or by single-strand conformational polymorphism (SSCP).

Genetic mapping of the FACC gene and linkage analysis in Fanconi anaemia families.

Fanconi anaemia is an autosomal recessive disorder associated with increased chromosome breakage and progressive bone marrow failure. The gene for complementation group C (FACC) has been cloned and mapped to chromosome 9q22.3, but neither its genetic location nor the proportion of patients belonging to group C is known.