Literature DB >> 8094069

Linkage mapping of the cystathionine beta-synthase (CBS) gene on human chromosome 21 using a DNA polymorphism in the 3' untranslated region.

D Avramopoulos1, T Cox, J P Kraus, A Chakravarti, S E Antonarakis.   

Abstract

We used single-strand conformation polymorphism (SSCP) to detect DNA polymorphisms in the 3' untranslated (3'UT) region of the gene for cystathionine beta-synthase (CBS). A polymorphism due to a T-to-C substitution at nucleotide 549 of the 3'UT region with heterozygosity of 46% has been identified. Genotypes for this polymorphism have been obtained in all of the informative CEPH families, and CBS has been placed in the linkage map of human chromosome 21.

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Year:  1993        PMID： 8094069     DOI： 10.1007/bf00217460

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


  8 in total

1.  Rapid and sensitive detection of point mutations and DNA polymorphisms using the polymerase chain reaction.

Authors:  M Orita; Y Suzuki; T Sekiya; K Hayashi
Journal:  Genomics       Date:  1989-11       Impact factor: 5.736

Review 2.  Polymorphisms in the transcribed 3' untranslated region of eukaryotic genes.

Authors:  R C Levitt
Journal:  Genomics       Date:  1991-10       Impact factor: 5.736

Review 3.  Mouse chromosome 17.

Authors:  K Artzt; D Barlow; W F Dove; K Fischer-Lindahl; J Klein; M F Lyon; L M Silver
Journal:  Mamm Genome       Date:  1991       Impact factor: 2.957

4.  Detection of polymorphisms of human DNA by gel electrophoresis as single-strand conformation polymorphisms.

Authors:  M Orita; H Iwahana; H Kanazawa; K Hayashi; T Sekiya
Journal:  Proc Natl Acad Sci U S A       Date:  1989-04       Impact factor: 11.205

5.  Detecting high-resolution polymorphisms in human coding loci by combining PCR and single-strand conformation polymorphism (SSCP) analysis.

Authors:  S E Poduslo; M Dean; U Kolch; S J O'Brien
Journal:  Am J Hum Genet       Date:  1991-07       Impact factor: 11.025

6.  The alpha-A-crystallin and cystathionine beta-synthase genes are physically very closely linked in proximal mouse chromosome 17.

Authors:  L Stubbs; J Kraus; H Lehrach
Journal:  Genomics       Date:  1990-06       Impact factor: 5.736

7.  The gene for cystathionine beta-synthase (CBS) maps to the subtelomeric region on human chromosome 21q and to proximal mouse chromosome 17.

Authors:  M Münke; J P Kraus; T Ohura; U Francke
Journal:  Am J Hum Genet       Date:  1988-04       Impact factor: 11.025

8.  Cloning and screening with nanogram amounts of immunopurified mRNAs: cDNA cloning and chromosomal mapping of cystathionine beta-synthase and the beta subunit of propionyl-CoA carboxylase.

Authors:  J P Kraus; C L Williamson; F A Firgaira; T L Yang-Feng; M Münke; U Francke; L E Rosenberg
Journal:  Proc Natl Acad Sci U S A       Date:  1986-04       Impact factor: 11.205
  8 in total
  5 in total

1.  Associations between human disease genes and overlapping gene groups and multiple amino acid runs.

Authors:  Samuel Karlin; Chingfer Chen; Andrew J Gentles; Michael Cleary
Journal:  Proc Natl Acad Sci U S A       Date:  2002-12-09       Impact factor: 11.205

Review 2.  Single-strand conformation polymorphism (SSCP) analysis as a tool for genetic mapping.

Authors:  D R Beier
Journal:  Mamm Genome       Date:  1993-11       Impact factor: 2.957

3.  Human cystathionine beta-synthase: gene organization and expression of different 5' alternative splicing.

Authors:  J F Chassé; V Paul; R Escañez; P Kamoun; J London
Journal:  Mamm Genome       Date:  1997-12       Impact factor: 2.957

4.  A yeast system for expression of human cystathionine beta-synthase: structural and functional conservation of the human and yeast genes.

Authors:  W D Kruger; D R Cox
Journal:  Proc Natl Acad Sci U S A       Date:  1994-07-05       Impact factor: 11.205

5.  PME of Unverricht-Lundborg type in the Mediterranean region: linkage and linkage disequilibrium confirm the assignment to the EPM1 locus.

Authors:  A E Lehesjoki; C A Tassinari; G Avanzini; R Michelucci; S Franceschetti; A Antonelli; G Rubboli; A de la Chapelle
Journal:  Hum Genet       Date:  1994-06       Impact factor: 4.132
  5 in total

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