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From 46 families of predominantly German origin, afflicted with haemophilia A, 178 females were tested for carrier status. Two polymorphic restriction endonuclease sites, the extragenic marker locus DXS 52 (St 14 probe) and the intragenic Bcl I RFLP were investigated in these families. In some cases the results were corroborated by identifying (i) deletions within the factor VIII:C gene and (ii) eliminating a restriction endonuclease site. Two new alleles of the DXS 52 marker locus were found. According to this strategy, 27 women were classified as carriers and 74 as non-carriers. Forty-six women were classified as carriers according to pedigree analysis. Twenty-five females of families with sporadic cases and 6 test persons, who had mothers who where homozygous for the marker alleles, were diagnosed by additional use of conventional carrier detection.
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The New Zealand medical journal,
R Schwaab, and
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K Olek
September 1987,
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May 1984,
Lancet (London, England),
R Schwaab, and
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June 1978,
Lancet (London, England),
R Schwaab, and
J Oldenburg, and
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December 1988,
Nihon Ketsueki Gakkai zasshi : journal of Japan Haematological Society,
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Human genetics,
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January 1988,
Progress in medical genetics,
R Schwaab, and
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January 2001,
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August 1987,
Blood,
