27Accesses
Summary
Among several cases of partial monosomies and full and partial trisomies 21, the enzymatic activity of phosphofructokinase (PFK) is increased only in 21q21→21pter trisomy with a (T21/N) ratio equal to 1.35 and decreased in monosomy 21q21→21pter. These results suggest that the human gene for liver-type PFK is located between 21q21 and 21pter.
This is a preview of subscription content,log in via an institution to check access.
Access this article
Subscribe and save
- Get 10 units per month
- Download Article/Chapter or eBook
- 1 Unit = 1 Article or 1 Chapter
- Cancel anytime
Buy Now
Price includes VAT (Japan)
Instant access to the full article PDF.
Similar content being viewed by others
References
Baikie AF, Loder PB, de Grouchy CG, Pitt DB (1965) Phosphohexokinase activity of erythrocytes in mongolism; another possible marker for chromosome 21. Lancet I:412–414
Cartier P, Leroux JP, Marchand JC (1967) Technique de dosage des enzymes glycolytiques tissulaires. Ann Biol Clin (Paris) 25:109–136
Chadefaux B, Allard D, Rethoré MO, Raoul O, Poissonnier M, Gilgenkrantz S, Cheruy C, Jérôme H (1984) Assignment of human phosphoribosylglycinamide synthetase locus to region 21q221. Hum Genet 66:190–192
Drabkin DL, Austin JH (1932) Spectrophotometry of hemoglobin. J Biol Chem 98:719
Epstein LB, Epstein JC (1976) Localization of the gene AVG for the antiviral expression of immune and classical interferon to the distal portion of the long arm of chromosome 21. J Infect Dis 133:56–62
Evans HG, Buckland RA, Pardue ML (1974) Location of the genes coding for 186 and 285 ribosomal RNA in the human genome. Chromosoma 48:405–426
Gregoire MJ, Boué J, Junien C, Pernot C, Gilgenkrantz S, Zergollern L (1981) Duplication 15q22→15pter and its phenotypic expression. Hum Genet 59:429–433
Poissonnier M, Saint-Paul B, Dutrillaux B, Chassaigne M, Gruyer P, Bligniére S, Stark G (1976) Trisomic 21 partielle 21q21→21q22.2. Ann Genet (Paris) 19:187–190
Raoul O, Carpentier S, Dutrillaux B, Mallet R, Lejeune J (1976) Trisomies partielles du chromosome 21 par translocation maternelle t(15;21)(q26.2;q21). Ann Genet (Paris) 19:187–190
Rethoré MO, Dutrillaux B, Lejeune J (1973) Translocation t(15;21) (q13;q22.1) chez la mère de deux enfants atteints de trisomie 15 et de monosomie 21 partielle. Ann Genet (Paris) 16:271–275
Scoggin CH, Blaskan J, Davidson JN, Patterson D (1980) Gene expression of glycinamide ribonucleotide synthetase in Down's syndrome. Clin Res 28:31A
Sinet PM, Couturier J, Dutrillaux B, Poissonnier M, Raoul O, Rethoré MO, Allard D, Lejeune J, Jérôme H (1976) Trisomie 21 et superoxyde dismutase 1. Exp Cell Res 97:47–55
Vora S, Francke U (1981) Assignment of the human gene for livertype 6-phosphofructokinase isozyme (PFKL) to chromosome 21 by using somatic cell hybrids and monoclonal anti-L antibody. Proc Natl Acad Sci USA 78:3738–3742
Author information
Authors and Affiliations
Laboratoire de Biochimie Génétique, Hôpital Necker-Enfants Malades, 149 rue de Sèvres, F-75743, Paris Cedex 15, France
B. Chadefaux & D. Allard
Institut de Progénèse, 45 rue des Saints Pères, F-75270, Paris Cedex 06, France
M. O. Rethoré
- B. Chadefaux
You can also search for this author inPubMed Google Scholar
- M. O. Rethoré
You can also search for this author inPubMed Google Scholar
- D. Allard
You can also search for this author inPubMed Google Scholar
Rights and permissions
About this article
Cite this article
Chadefaux, B., Rethoré, M.O. & Allard, D. Regional mapping of liver type 6 phosphofructokinase isoenzyme on chromosome 21.Hum Genet68, 136–137 (1984). https://doi.org/10.1007/BF00279302
Received:
Revised:
Issue Date:
Share this article
Anyone you share the following link with will be able to read this content:
Sorry, a shareable link is not currently available for this article.
Provided by the Springer Nature SharedIt content-sharing initiative