Applicability of LDLR flanking microsatellite polymorphisms for prenatal diagnosis of homozygous state for familial hypercholesterolemia.
Analysis of newly identified microsatellite polymorphisms flanking the low density lipoprotein receptor (LDLR) gene was undertaken in the kindred of a child with apparent homozygous LDLR deficiency. The applicability of these approaches to prenatal diagnosis is considered and compared with previous approaches applying functional studies of the LDLR in amniotic fibroblasts.
De Oliveira e Silva
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Laboratory of Biochemical Genetics and Metabolism, The Rockefeller University, New York, NY 10021-6399, USA.
Haddad
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Kwiterovich
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Humphries
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Day
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D000328:Adult; D002675:Child, Preschool; D005260:Female; D005796:Genes / Q000235:genetics*; D005799:Genes, Dominant / Q000235:genetics; D030342:Genetic Diseases, Inborn / Q000235:genetics; D006720:Homozygote; D006801:Humans; D006938:Hyperlipoproteinemia Type II / Q000235:genetics*; D008297:Male; D018895:Microsatellite Repeats / Q000235:genetics*; D010375:Pedigree; D011110:Polymorphism, Genetic; D011973:Receptors, LDL / Q000172:deficiency / Q000235:genetics*
D011973:Receptors, LDL