HOME HELP FEEDBACK SUBSCRIPTIONS ARCHIVE SEARCH TABLE OF CONTENTS		QUICK SEARCH:   [advanced] Author: Keyword(s): Year:  Vol:  Page:

This Article Full Text (PDF) Alert me when this article is cited Alert me if a correction is posted Services Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal Download to citation manager Citing Articles Citing Articles via HighWire Citing Articles via Google Scholar Google Scholar Articles by Benlian, P. Articles by Chuat, J. C. Search for Related Content PubMed PubMed Citation Articles by Benlian, P. Articles by Chuat, J. C. Social Bookmarking                      What's this?

Journal of Lipid Research, Vol 36, 356-366, Copyright © 1995 by Lipid Research, Inc.

ARTICLES

Homozygous deletion of exon 9 causes lipoprotein lipase deficiency: possible intron-Alu recombination

P Benlian, J Etienne, JL de Gennes, L Noe, D Brault, A Raisonnier, F Arnault, J Hamelin, L Foubert and JC Chuat
Biochimie et Endocrinologie, CHU Pitie Salpetriere, Paris, France.

We studied a homozygous deletion in the lipoprotein lipase gene at the molecular level. Comprising the end of intron 8, the whole of exon 9, and about two-thirds of intron 9, this 2.136-kb deletion caused complete lipoprotein lipase deficiency and severe hypertriglyceridemia (type I hyperlipoproteinemia). Intron 9 of a normal control subject was also sequenced in order to define the exact borders of the deletion. Up to now, only the first 0.721 kb of intron 9 had been sequenced. Thus the complete sequence of intron 9 (3.090 kb) is now available. Three Alu sequences were characterized in the normal intron 9, while the proband had only the third complete Alu sequence. The first Alu sequence was located in the deleted region, and only the left arm of the second was present, as the deletion began near its center. A stem- loop structure involving a 14-nt region towards the end of intron 8 and an Alu sequence in intron 9 might have led to the deletion. Sequence analysis showed that the three Alu sequences belonged to the 40-million- year-old Alu-Sa subclass.
CiteULike    Complore    Connotea    Del.icio.us    Digg    Reddit    Technorati    What's this?

This article has been cited by other articles:

				J. A. Thorn, E. W. A. Needham, R. K. Mattu, J. Stocks, and D. J. Galton The Ser447–Ter mutation of the lipoprotein lipase gene relates to variability of serum lipid and lipoprotein levels in monozygotic twins1 J. Lipid Res., February 1, 1998; 39(2): 437 - 441. [Abstract] [Full Text]