Chorionic DNA analysis for the prenatal diagnosis of familial hypercholesterolaemia
- 1 October 1993
- journal article
- Published by Springer Nature in Human Genetics
- Vol. 92 (4) , 424-426
- https://doi.org/10.1007/bf01247350
Abstract
Prenatal diagnosis for familial hypercholesterolaemia (FH) was performed by using restriction fragment length polymorphisms (RFLPs) of the LDL receptor gene on chorionic villi DNA taken during the 10th week of pregnancy. Both parents were FH heterozygotes and had previously had a healthy son and an FH homozygous son. Two RFLPs were informative in this family and revealed that the fetus was unaffected by FH. At birth the child was found to have an LDL cholesterol level of 30 mg/dl and a normal LDL receptor activity in cultured umbilical cord fibroblasts. RFLP analysis on chorionic villi DNA is highly recommended for all heterozygous FH couples in whom the LDL receptor gene mutation/s is/are still to be characterized.Keywords
This publication has 10 references indexed in Scilit:
- A large deletion in the LDL receptor gene--the cause of familial hypercholesterolemia in three Italian families: a study that dates back to the 17th century (FH-Pavia).1992
- Prenatal diagnosis of familial hypercholesterolemia caused by the ?Lebanese? mutation at the low density lipoprotein receptor locusHuman Genetics, 1992
- POLYMORPHIC DNA HAPLOTYPES AT THE LDL RECEPTOR LOCUS1989
- Four DNA polymorphisms in the LDL receptor gene: their genetic relationship and use in the study of variation at the LDL receptor locus.Journal of Medical Genetics, 1988
- Transabdominal chorionic villus sampling for fetal genetic diagnosis. Technical and obstetrical evaluation of 100 casesPrenatal Diagnosis, 1988
- Improved visualization of the Bst EII RFLP of the human LDL receptor gene by co-digestionNucleic Acids Research, 1987
- Direct fetal blood examination for prenatal diagnosis of homozygous familial hypercholesterolemia.Arteriosclerosis: An Official Journal of the American Heart Association, Inc., 1985
- [19] Receptor-mediated endocytosis of low-density lipoprotein in cultured cellsPublished by Elsevier ,1983
- Familial hypercholesterolemia: Report of coronary death at age 3 in a homozygous child and prenatal diagnosis in a heterozygous siblingThe Journal of Pediatrics, 1982
- PRENATAL DIAGNOSIS OF HOMOZYGOUS FAMILIAL HYPERCHOLESTEROLqMIA Expression of a Genetic Receptor Disease in UteroThe Lancet, 1978