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Chorionic DNA analysis for the prenatal diagnosis of familial hypercholesterolaemia |
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| Authors: | Domenico A Coviello Stefano Bertolini Paola Masturzo Margherita Ghisellini Roberta Tiozzo Franca Zambelli Claudio Stefanutti Francesco Torcia Antonio Pachi Giorgio Ricci Sebastiano Calandra |
| Institution: | (1) Institute of Biology and Genetics, University of Genoa, Italy;(2) Atherosclerosis Prevention Centre, Department of Internal Medicine, University of Genoa, Italy;(3) Institute of General Pathology, University of Modena, Italy;(4) Institute of Medical Therapy, University of Rome  La Sapienza , Rome, Italy;(5) Centre of Prenatal Diagnosis, Department of Obstetrics/Gynaecology, University of Rome La Sapienza, Rome, Italy;(6) Atherosclerosis Prevention Centre, Department of Internal Medicine, University of Genoa, Viale Benedetto XV6, I-16132 Genoa, Italy |
| 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. |
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