Figure 5. Family 8: Pedigrees and SSCP analyses of polymorphisms in exon 2 of the hLF gene used to investigate the relationship between the hLF genotype and FSCA in Families 2-11.

Individual #1 is homozygous for the X allele of hLF and individual #2 is homozygous for the Y allele of hLF. Therefore one of the X alleles in affected individuals 4 and 5 had to come from the non-family member #8. Although #4 and #5 are homozygous for the X allele of hLF, one of the X alleles is from the non-family member #8. In this family it is hence highly unlikely that the autosomal recessive phenotype is a result of the lactoferrin gene. Because of the inbreeding, homogeneity of recessive alleles would be expected to cause FSCA.