Literature DB >> 858628

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

M O Rethoré, J C Kaplan, C Junien, J Lejeune.   

Abstract

Red cell triose-phosphate isomerase (TPI) was determined, together with other enzymes, in three patients with chromosome 12 abnormalities. In patient No. 1 (trisomy of the segment 12 pter leads to 12q 12) and in patient No. 2 (trisomy of the segment 12pter leads to 12p 12.1), the TPI activity was significantly increased. In patient No. 3 (deletion of the segment 12 p 11 leads to 12 p 12.2), the TPI activity was in the normal range. These results suggest that the human TPI locus is located on the chromosome 12 short arm, between 12p ter and 12 p 12.2.

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Year:  1977        PMID: 858628     DOI: 10.1007/BF00273263

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


  5 in total

1.  Gene dosage effect in human triploid fibroblasts.

Authors:  C Junien; H Rubinson; J C Dreyfus; M C Meinenhofer; N Ravise; J Boué; A Boué
Journal:  Hum Genet       Date:  1976-07-07       Impact factor: 4.132

2.  [A new technic of analysis of the human karyotype].

Authors:  B Dutrillaux; J Lejeune
Journal:  C R Acad Hebd Seances Acad Sci D       Date:  1971-05-17

3.  Proceedings: Evidence for synteny between the human loci for triose phosphate isomerase, lactate dehydrogenase-B, and peptidase-B and the regional mapping of these loci on chromosome 12.

Authors:  A P Jongsma; W R Los; A Hagemeijer
Journal:  Cytogenet Cell Genet       Date:  1974

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

Authors:  M O Rethoré; C Junien; G Malpuech; C Baccichetti; R Tenconi; J C Kaplan; J de Romeuf; J Lejeune
Journal:  Ann Genet       Date:  1976-06

5.  [Increase of the LDH-B activity in a boy with 12p trisomy by malsegregation of a maternal translocation t(12;14) (q12;p11)].

Authors:  M O Rethoré; J C Kaplan; C Junien; J Cruveiller; B Dutrillaux; A Aurias; S Carpentier; J Lafourcade
Journal:  Ann Genet       Date:  1975-06
  5 in total
  5 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.  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

3.  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

4.  Hereditary triose phosphate isomerase deficiency: seven new homozygous cases.

Authors:  R Rosa; M O Prehu; M C Calvin; J Badoual; D Alix; R Girod
Journal:  Hum Genet       Date:  1985       Impact factor: 4.132

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

  5 in total

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