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Recombinational event between Norrie disease and DXS7 loci
Author(s) -
Ngo Julielani T.,
Spence M. Anne,
Cortessis Victoria,
Sparkes Robert S.,
Bateman J. Bronwyn
Publication year - 1988
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1988.tb02614.x
Subject(s) - locus (genetics) , genetics , recombination , disease , biology , gene , medicine
We have identified a family affected with X‐linked recessive Norrie disease, in which a recombinational event occurred between the disease locus and the DXS7 locus identified by the probe L1.28. The addition of our family brings the total of published informative families to seven, with a maximum lod score of 7.58 at a recombination frequency of 0.038 pL 0.036. This finding indicates that the L1.28 probe is useful but may not be completely reliable for prenatal diagnosis and that the gene for Norrie disease is not within the DNA sequence identified by the L1.28 probe.