Literature DB >> 3523795

A DNA polymorphism in the human low-density lipoprotein receptor gene.

M J Kotze, A E Retief, P A Brink, H F Weich.   

Abstract

A new restriction fragment length polymorphism (RFLP) in the low-density lipoprotein receptor gene is described using the Stu I restriction endonuclease and a cDNA probe. The frequency of the two RFLP alleles was determined in 60 unrelated white subjects and 11.7% of them were found to be heterozygous for the polymorphism. Mendelian segregation of the RFLP was found in 3 informative families. The possible use of the RFLP in the diagnosis of familial hypercholesterolaemia in South Africa is discussed.

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Year:  1986        PMID： 3523795

Source DB:  PubMed          Journal:  S Afr Med J


  17 in total

1.  A combinatorial partitioning method to identify multilocus genotypic partitions that predict quantitative trait variation.

Authors:  M R Nelson; S L Kardia; R E Ferrell; C F Sing
Journal:  Genome Res       Date:  2001-03       Impact factor: 9.043

Review 2.  The use of recombinant DNA techniques for the diagnosis of familial hypercholesterolaemia.

Authors:  S Humphries; R Taylor; M Jeenah; M Seed
Journal:  J Inherit Metab Dis       Date:  1988       Impact factor: 4.982

3.  TaqI polymorphism in the LDL receptor gene and a TaqI 1.5-kb band associated with familial hypercholesterolemia.

Authors:  K Yamakawa; T Okafuji; Y Iwamura; K Yuzawa; J Satoh; N Hattori; Y Yamanouchi; H Yanagi; K Kawai; S Tsuchiya
Journal:  Hum Genet       Date:  1988-09       Impact factor: 4.132

4.  Four DNA polymorphisms in the LDL receptor gene: their genetic relationship and use in the study of variation at the LDL receptor locus.

Authors:  R Taylor; M Jeenah; M Seed; S Humphries
Journal:  J Med Genet       Date:  1988-10       Impact factor: 6.318

5.  Multiple crm- mutations in familial hypercholesterolemia. Evidence for 13 alleles, including four deletions.

Authors:  H H Hobbs; E Leitersdorf; J L Goldstein; M S Brown; D W Russell
Journal:  J Clin Invest       Date:  1988-03       Impact factor: 14.808

6.  Multiple mutations underlying familial hypercholesterolemia in the South African population.

Authors:  H E Henderson; M J Kotze; G M Berger
Journal:  Hum Genet       Date:  1989-08       Impact factor: 4.132

7.  Screening for point mutations in exon 10 of the low density lipoprotein receptor gene by analysis of single-strand conformation polymorphisms: detection of a nonsense mutation-FH469-->Stop.

Authors:  T P Leren; K Solberg; O K Rødningen; O Røsby; S Tonstad; L Ose; K Berg
Journal:  Hum Genet       Date:  1993-08       Impact factor: 4.132

8.  Two novel frameshift mutations in the low density lipoprotein receptor gene generated by endogenous sequence-directed mechanisms.

Authors:  A V Peeters; L F Van Gaal; L Theart; E Langenhoven; M J Kotze
Journal:  Hum Genet       Date:  1995-10       Impact factor: 4.132

9.  Polymorphic haplotypes and recombination rates at the LDL receptor gene locus in subjects with and without familial hypercholesterolemia who are from different populations.

Authors:  A R Miserez; H Schuster; N Chiodetti; U Keller
Journal:  Am J Hum Genet       Date:  1993-04       Impact factor: 11.025

10.  Familial hypercholesterolemia in South African Afrikaners. PvuII and StuI DNA polymorphisms in the LDL-receptor gene consistent with a predominating founder gene effect.

Authors:  P A Brink; L T Steyn; G A Coetzee; D R Van der Westhuyzen
Journal:  Hum Genet       Date:  1987-09       Impact factor: 4.132
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