Catalogo Articoli (Spogli Riviste)

OPAC HELP

Titolo:
ILE(225)THR LOOP MUTATION IN THE LIPOPROTEIN-LIPASE (LPL) GENE IS A DE-NOVO EVENT
Autore:
HENDERSON HE; BIJVOET SM; MANNENS MAMM; BRUIN T; ERKELENS DW; HAYDEN MR; KASTELEIN JJP;
Indirizzi:
UNIV AMSTERDAM,ACAD MED CTR,DEPT VASC MED,G1-146,MEIBERGDREEF 9 NL-1105 AZ AMSTERDAM NETHERLANDS UNIV AMSTERDAM,ACAD MED CTR,DEPT VASC MED NL-1105 AZ AMSTERDAM NETHERLANDS UNIV AMSTERDAM,ACAD MED CTR,DEPT MED GENET NL-1105 AZ AMSTERDAM NETHERLANDS UNIV BRITISH COLUMBIA,DEPT MED GENET VANCOUVER BC CANADA UNIV UTRECHT,DEPT INTERNAL MED UTRECHT NETHERLANDS UNIV CAPE TOWN,DEPT CHEM PATHOL ZA-7925 CAPE TOWN SOUTH AFRICA
Titolo Testata:
American journal of medical genetics
fascicolo: 4, volume: 78, anno: 1998,
pagine: 313 - 316
SICI:
0148-7299(1998)78:4<313:ILMITL>2.0.ZU;2-U
Fonte:
ISI
Lingua:
ENG
Soggetto:
DIFFERENT ANCESTRIES; MISSENSE MUTATIONS; POLYMORPHISM; DEFICIENCY;
Keywords:
HUMAN; LPL; DE NOVO MUTATION;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Science Citation Index Expanded
Citazioni:
19
Recensione:
Indirizzi per estratti:
Citazione:
H.E. Henderson et al., "ILE(225)THR LOOP MUTATION IN THE LIPOPROTEIN-LIPASE (LPL) GENE IS A DE-NOVO EVENT", American journal of medical genetics, 78(4), 1998, pp. 313-316

Abstract

Mutations in the lipoprotein lipase (LPL) gene are the most importantcause of familial chylomicronemia with over 70 mutations being recorded to date. Thus far de novo mutations have not been described. Here we report on the molecular analysis of the family of a patient previously reported to be LPL deficient on the basis of compound heterozygosity for the Arg(243)His and Ile(225)Thr mutations, the latter being the first and only mutation identified in the loop region of LPL, Both parents of the propositus were screened for the presence of these two mutations to confirm their status as obligate heterozygotes and to determine the mutation allocation. Although paternal inheritance of the Arg243His allele could be established, maternal DNA did not show carrier status for the Ile225Thr substitution, An examination of maternity, using LPL restriction fragment length polymorphisms four polymorphic CA repeats and ApoE genotypes, was consistent with. correct biological parentage for the propositus, Therefore, we conclude that the IIe(225)Thrmutation constitutes a de novo event, the first to be reported in theLPL gene.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 31/03/20 alle ore 09:43:17