Premium
Restriction Enzyme Analysis of Norrie Disease Pedigrees
Author(s) -
Chung SungRo,
Katayama Susumu,
Lebo Roger,
Golbus Mitchell S.
Publication year - 1992
Publication title -
journal of obstetrics and gynaecology research
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.597
H-Index - 50
eISSN - 1447-0756
pISSN - 1341-8076
DOI - 10.1111/j.1447-0756.1992.tb00011.x
Subject(s) - pedigree chart , locus (genetics) , medicine , allele , genetics , population , gene , biology , environmental health
Carrier detection and prenatal diagnosis of Norrie disease (ND) were performed using the polymorphic L1.28, OTC, and 58–1 probes. L1.28 was polymorphic in 3 of the 5 ND families tested and informative in 2 families (40%). Probe 58–1 and OTC were informative in one of 3 families (33%) and in both of the 2 families (100%) tested, respectively. The major allele frequency was 73% in L1.28 (DXS7), 89% in 58–1 (DXS14), and 50% in OTC in our patient population. One of 5 families studies showed a recombination between probes (L1.28 and OTC) and the ND gene locus placing the ND locus proximal to L1.28 and OTC.