Literature DB >> 1085604

[Localization of the gene of the glyceraldehyde 3 phosphate dehydrogenase on the distal segment of the short arm of the chromosome 12].

M O Rethoré, C Junien, G Malpuech, C Baccichetti, R Tenconi, J C Kaplan, J de Romeuf, J Lejeune.   

Abstract

The enzymatic activity of G3PD and LDH-B in erythrocytes has been assayed in three patients carrying a rearrangement of the short arm of chromosome 12. The first patient is trisomic for the whole short arm. The second is trisomic only for the distal part and the third is monosomic for the proximal part. G3PD: Activity increased in patients 1 and 2 and normal in patient 3. LDH-B: Activity increased in patients 1 and 2 and decreased in patient 3. From these observations it is concluded that the erythrocytic G3PD locus is localized on the distal part of 12p, between 12p12.2 and 12 pter, and that LDH-B locus is on the middle third between 12p12.1 and 12p12.2

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Year:  1976        PMID: 1085604

Source DB:  PubMed          Journal:  Ann Genet        ISSN: 0003-3995


  7 in total

1.  Syndrome +12p. Case report and review.

Authors:  R Tenconi; E Piovan; A Preto; R Magnabosco; C Baccichetti
Journal:  Hum Genet       Date:  1977-11-02       Impact factor: 4.132

2.  Inversion duplication of chromosome 6 with trisomic codominant expression of HLA antigens.

Authors:  G Pearson; J D Mann; J Bensen; R W Bull
Journal:  Am J Hum Genet       Date:  1979-01       Impact factor: 11.025

3.  PK3: a new chromosome enzyme marker for gene dosage studies in chromosome 15 imbalance.

Authors:  C Junien; H Rubinson-Skala; J C Dreyfus; N Ravise; J Boué; A Boué; J C Kaplan
Journal:  Hum Genet       Date:  1980       Impact factor: 4.132

4.  New chromosomal dysmorphic syndromes. 4. Trisomy 12p.

Authors:  S Stengel-Rutkowski; A Albert; J D Murken; K Zahn-Messow; A Rodewald; M Zankl; H Saule; J Stene
Journal:  Eur J Pediatr       Date:  1981-07       Impact factor: 3.183

5.  Gene dosage effect for human triosephosphate isomerase and glyceraldehyde-3-phosphate dehydrogenase in partial trisomy 12p13 and trisomy 18p.

Authors:  F Serville; C Junien; J C Kaplan; M Gachet; J Cadoux; A Broustet
Journal:  Hum Genet       Date:  1978-11-24       Impact factor: 4.132

6.  12pter to 12p12.2: possible assignment of human triose phosphate isomerase.

Authors:  M O Rethoré; J C Kaplan; C Junien; J Lejeune
Journal:  Hum Genet       Date:  1977-04-15       Impact factor: 4.132

7.  Genome-wide linkage and association scans for quantitative trait Loci of serum lactate dehydrogenase-the framingham heart study.

Authors:  Jing-Ping Lin; Gang Zheng; Jungnam Joo; L Adrienne Cupples
Journal:  Hum Genomics Proteomics       Date:  2010-09-01
  7 in total

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