During a survey of Italian patients with familial hypercholesterolemia (FH), we identified an FH heterozygous patient with a gross rearrangement of the low density lipoprotein (LDL) receptor gene. Southern blot analysis of the proband's DNA digested with restriction enzymes PvuII, BamHI, BglII and XbaI and hybridization with cDNA probes complementary to the 3' end of the gene revealed the presence of abnormal fragments that were approximately 7 kb larger than their normal counterparts. DNA digestion with other enzymes (EcoRV, NcoI, KpnI and StuI) and hybridization with probes complementary to exons 13-17 generated normal fragments and an abnormal fragment of 6.3-6.8 kb. These results are consistent with the presence of an insertion of approximately 7 kb caused by a duplication of exons 13, 14 and 15. This is a novel mutation that is most probably the result of an unequal crossing-over between repetitive sequences located in intron 12 and intron 15. This novel mutation has been designated FHBologna

Duplication of exons 13, 14 and 15 of the LDL-receptor gene in a patients with heterozygous familial hypercholesterolemia / Lelli, N; Ghisellini, Margherita; CALANDRA BUONAURA, Sebastiano; Gaddi, A; Ciarrocchi, A; Coviello, Da; Bertolini, S.. - In: HUMAN GENETICS. - ISSN 0340-6717. - STAMPA. - 86:(1991), pp. 359-362.

Duplication of exons 13, 14 and 15 of the LDL-receptor gene in a patients with heterozygous familial hypercholesterolemia

GHISELLINI, Margherita;CALANDRA BUONAURA, Sebastiano;
1991-01-01

Abstract

During a survey of Italian patients with familial hypercholesterolemia (FH), we identified an FH heterozygous patient with a gross rearrangement of the low density lipoprotein (LDL) receptor gene. Southern blot analysis of the proband's DNA digested with restriction enzymes PvuII, BamHI, BglII and XbaI and hybridization with cDNA probes complementary to the 3' end of the gene revealed the presence of abnormal fragments that were approximately 7 kb larger than their normal counterparts. DNA digestion with other enzymes (EcoRV, NcoI, KpnI and StuI) and hybridization with probes complementary to exons 13-17 generated normal fragments and an abnormal fragment of 6.3-6.8 kb. These results are consistent with the presence of an insertion of approximately 7 kb caused by a duplication of exons 13, 14 and 15. This is a novel mutation that is most probably the result of an unequal crossing-over between repetitive sequences located in intron 12 and intron 15. This novel mutation has been designated FHBologna
86
359
362
Duplication of exons 13, 14 and 15 of the LDL-receptor gene in a patients with heterozygous familial hypercholesterolemia / Lelli, N; Ghisellini, Margherita; CALANDRA BUONAURA, Sebastiano; Gaddi, A; Ciarrocchi, A; Coviello, Da; Bertolini, S.. - In: HUMAN GENETICS. - ISSN 0340-6717. - STAMPA. - 86:(1991), pp. 359-362.
Lelli, N; Ghisellini, Margherita; CALANDRA BUONAURA, Sebastiano; Gaddi, A; Ciarrocchi, A; Coviello, Da; Bertolini, S.
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11380/741999
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