Literature DB >> 8099055

Support for founder effect for two lipoprotein lipase (LPL) gene mutations in French Canadians by analysis of GT microsatellites flanking the LPL gene.

S Wood1, M Schertzer, M Hayden, Y Ma.   

Abstract

Mutations in the human lipoprotein lipase (LPL) gene are one of the major causes of familial chylomicronemia. We have characterized two polymorphic GT microsatellites flanking this gene. Two LPL mutations that are extremely frequent in French Canadians appear to be in complete linkage disequilibrium with specific LPL microsatellite haplotypes indicating a founder effect within this population.

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Year:  1993        PMID： 8099055     DOI： 10.1007/bf00217348

Source DB:  PubMed          Journal:  Hum Genet        ISSN： 0340-6717            Impact factor:   4.132


  23 in total

1.  Construction of a GT polymorphism map of human 9q.

Authors:  D J Kwiatkowski; E P Henske; K Weimer; L Ozelius; J F Gusella; J Haines
Journal:  Genomics       Date:  1992-02       Impact factor: 5.736

2.  Characterization of a human chromosome 8 cosmid library constructed from flow-sorted chromosomes.

Authors:  S Wood; M Schertzer; H Drabkin; D Patterson; J L Longmire; L L Deaven
Journal:  Cytogenet Cell Genet       Date:  1992

3.  A mutation in the human lipoprotein lipase gene as the most common cause of familial chylomicronemia in French Canadians.

Authors:  Y Ma; H E Henderson; V Murthy; G Roederer; M V Monsalve; L A Clarke; T Normand; P Julien; C Gagné; M Lambert
Journal:  N Engl J Med       Date:  1991-06-20       Impact factor: 91.245

4.  Relation of plasma high-density lipoprotein cholesterol to lipoprotein-lipase activity in adipose tissue and skeletal muscle of man.

Authors:  E A Nikkilä; M R Taskinen; M Kekki
Journal:  Atherosclerosis       Date:  1978-04       Impact factor: 5.162

5.  Centre d'etude du polymorphisme humain (CEPH): collaborative genetic mapping of the human genome.

Authors:  J Dausset; H Cann; D Cohen; M Lathrop; J M Lalouel; R White
Journal:  Genomics       Date:  1990-03       Impact factor: 5.736

6.  A missense mutation (Asp250----Asn) in exon 6 of the human lipoprotein lipase gene causes chylomicronemia in patients of different ancestries.

Authors:  Y Ma; B I Wilson; S Bijvoet; H E Henderson; E Cramb; G Roederer; M R Ven Murthy; P Julien; H D Bakker; J J Kastelein
Journal:  Genomics       Date:  1992-07       Impact factor: 5.736

7.  Founder effect in familial hyperchylomicronemia among French Canadians of Quebec.

Authors:  M De Braekeleer; C Dionne; C Gagné; P Julien; D Brun; M R Ven Murthy; P J Lupien
Journal:  Hum Hered       Date:  1991       Impact factor: 0.444

8.  RFLP for the human lipoprotein lipase (LPL) gene: HindIII.

Authors:  C Heinzmann; J Ladias; S Antonarakis; T Kirchgessner; M Schotz; A J Lusis
Journal:  Nucleic Acids Res       Date:  1987-08-25       Impact factor: 16.971

9.  Structure of the human lipoprotein lipase gene.

Authors:  S S Deeb; R L Peng
Journal:  Biochemistry       Date:  1989-05-16       Impact factor: 3.162

10.  Human genes involved in lipolysis of plasma lipoproteins: mapping of loci for lipoprotein lipase to 8p22 and hepatic lipase to 15q21.

Authors:  R S Sparkes; S Zollman; I Klisak; T G Kirchgessner; M C Komaromy; T Mohandas; M C Schotz; A J Lusis
Journal:  Genomics       Date:  1987-10       Impact factor: 5.736
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  7 in total

1.  Assessment of French patients with LPL deficiency for French Canadian mutations.

Authors:  L Foubert; J L De Gennes; J P Lagarde; E Ehrenborg; A Raisonnier; J P Girardet; M R Hayden; P Benlian
Journal:  J Med Genet       Date:  1997-08       Impact factor: 6.318

2.  Multilocus genetic determinants of LDL particle size in coronary artery disease families.

Authors:  J I Rotter; X Bu; R M Cantor; C H Warden; J Brown; R J Gray; P J Blanche; R M Krauss; A J Lusis
Journal:  Am J Hum Genet       Date:  1996-03       Impact factor: 11.025

3.  Quantitative trait locus mapping of human blood pressure to a genetic region at or near the lipoprotein lipase gene locus on chromosome 8p22.

Authors:  D A Wu; X Bu; C H Warden; D D Shen; C Y Jeng; W H Sheu; M M Fuh; T Katsuya; V J Dzau; G M Reaven; A J Lusis; J I Rotter; Y D Chen
Journal:  J Clin Invest       Date:  1996-05-01       Impact factor: 14.808

4.  Complete paternal isodisomy for chromosome 8 unmasked by lipoprotein lipase deficiency.

Authors:  P Benlian; L Foubert; E Gagné; L Bernard; J L De Gennes; S Langlois; W Robinson; M Hayden
Journal:  Am J Hum Genet       Date:  1996-08       Impact factor: 11.025

5.  Recurrence of the R408W mutation in the phenylalanine hydroxylase locus in Europeans.

Authors:  R C Eisensmith; A A Goltsov; C O'Neill; L A Tyfield; E I Schwartz; A I Kuzmin; S S Baranovskaya; G L Tsukerman; E Treacy; C R Scriver
Journal:  Am J Hum Genet       Date:  1995-01       Impact factor: 11.025

6.  Evidence for a cholesterol-lowering gene in a French-Canadian kindred with familial hypercholesterolemia.

Authors:  C Sass; L M Giroux; Y Ma; M Roy; J Lavigne; S Lussier-Cacan; J Davignon; A Minnich
Journal:  Hum Genet       Date:  1995-07       Impact factor: 4.132

7.  Linkage analysis of the genetic determinants of high density lipoprotein concentrations and composition: evidence for involvement of the apolipoprotein A-II and cholesteryl ester transfer protein loci.

Authors:  X Bu; C H Warden; Y R Xia; C De Meester; D L Puppione; S Teruya; B Lokensgard; S Daneshmand; J Brown; R J Gray
Journal:  Hum Genet       Date:  1994-06       Impact factor: 4.132
  7 in total

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