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Prenatal diagnosis of adult polycystic kidney disease with DNA markers on chromosome 16 and the genetic heterogeneity problem
Author(s) -
Novelli G.,
Frontali M.,
Baldini D.,
Bosman C.,
Dallapiccola B.,
Pachì A.,
Torcia F.
Publication year - 1989
Publication title -
prenatal diagnosis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.956
H-Index - 97
eISSN - 1097-0223
pISSN - 0197-3851
DOI - 10.1002/pd.1970091104
Subject(s) - proband , prenatal diagnosis , restriction fragment length polymorphism , genetic linkage , biology , genetics , genotype , genetic marker , polycystic kidney disease , genetic counseling , disease , genetic heterogeneity , fetus , pathology , medicine , kidney , pregnancy , mutation , phenotype , gene
Abstract A prenatal diagnosis of adult polycystic kidney disease by DNA testing is reported. Evidence showing a linkage between the disease and the 3′HVR and 24.1 restriction fragment length polymorphisms (RFLPs) on chromosome 16 was obtained in the proband's family by linkage analysis of data and homogeneity testing with Italian families of the linked type. Fetal genotype prediction based on both flanking markers was confirmed by histological and ultrastructural findings in fetal kidneys.