Prenatal analysis of the insulin receptor gene in a family with leprechaunism.
We report on the prenatal diagnosis of a fetus at risk of leprechaunism. We had previously determined the nature of the causative mutation in the insulin receptor gene in this family. The mutation removes a restriction site for the enzyme Mbo II. Genomic DNA was extracted from a chorionic villus sample and the 3' half of exon 2 was amplified by the polymerase chain reaction (PCR) followed by restriction digest. Using this method, we correctly predicted an unaffected child.
Department of Medicine, University of Cambridge, Addenbrookes Hospital, U.K.
A
A
Krook
J A
JA
Bell
M E
ME
Robertson
L
L
Brueton
S
S
O'Rahilly
D002824:Chorionic Villi / Q000737:chemistry; D004247:DNA / Q000032:analysis / Q000235:genetics; D005091:Exons; D005260:Female; D006130:Growth Disorders / Q000175:diagnosis* / Q000209:etiology / Q000235:genetics*; D006801:Humans; D008297:Male; D009154:Mutation; D010375:Pedigree; D016133:Polymerase Chain Reaction; D011247:Pregnancy; D011296:Prenatal Diagnosis; D011972:Receptor, Insulin / Q000235:genetics*
D004247:DNA; D011972:Receptor, Insulin