In a family in which X-linked megalocornea is segregating, the disease locus was found to be closely linked to DXS87 (zeta max = 3.91, theta max = 0.00) and DXS94 (zeta max = 3.34, theta max = 0.00) in Xq21.3-q22.
Using RFLP studies, the disease locus in two X‐linked retinitis pigmentosa families was found to be centromeric to DXS7 in one family and telomeric to DXS7 in another, suggesting nonallelic heterogeneity.
Restriction fragment length polymorphism studies and gene dosage analysis using the intragenic probes pERT87 were used to detect deletions in potential carriers in a family with Duchenne muscular dystrophy in which the only affected male was deceased. Two females were found to have inherited the paternal pERT87 alleles but not the maternal alleles, suggesting that they have inherited the pERT87 deletion from their mothers. The hybridization signals of pERT87 from these two females upon gene dosage analysis also suggested that they had a single copy of pERT87. The chorionic villi of a male fetus from one of these two females was found to be deleted for pERT87, suggesting that it was affected. This result confirmed the carrier status of the mother.
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