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Literature DB >> 6262213

Gene dosage effect for GALT in 9p trisomy and in 9p tetrasomy with an improved technique for GALT determination.

P Eydoux, C Junien, S Despoisse, J Chassevent, C Bibring, C Gregori.

Abstract

A new born male and a three-year-old female with various dysmorphic features were both found to have to have a supernumerary chromosome. Clinical and cytogenetic findings confirmed the existence of a pure de novo 9p tetrasomy in the first case and a pure de novo 9p trisomy in the second case. Gene dosage effects were demonstrated for galactose-1-phosphate uridyltransferase GALT (EC 2.7.7.12) using an improved method for the assay of this enzyme in red blood cells. These findings are in agreement with previous results on similar cases and therefore confirm the assignment of the locus for GALT to 9p.

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Year: 1981 PMID： 6262213 DOI： 10.1007/bf00282010

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

10 in total

1. Standardization of hemoglobinometry. II. The hemiglobincyanide method.

Authors: E van KAMPEN; W G ZIJLSTRA
Journal: Clin Chim Acta Date: 1961-07 Impact factor: 3.786

2. Assignment of GALT to chromosome 9 and regional localization of GALT, AK1, AK3, and ACONS on chromosome 9.

Authors: T Mohandas; R S Sparkes; M C Sparkes; J D Shulkin; K E Toomey; S J Funderburk
Journal: Cytogenet Cell Genet Date: 1978

3. [4 cases of trisomy for the short arm of chromosome 9. Individualization of a new morbid entity].

Authors: M O Rethoré; L Larget-Piet; D Abonyi; M Boeswillwald; R Berger; S Carpentier; J Cruveiller; B Dutrillau; J Lafourcade; M Penneau; J Lejeune
Journal: Ann Genet Date: 1970-12

4. New method for determining ferrihemoglobin reductase (NADH-methemoglobin reductase) in erythrocytes.

Authors: E Hegesh; N Calmanovici; M Avron
Journal: J Lab Clin Med Date: 1968-08

5. New rapid method for the estimation of red cell galactose-1-phosphate uridyl transferase activity.

Authors: E Beutler; M Mitchell
Journal: J Lab Clin Med Date: 1968-09

6. International Committee for Standardization in Haematology: recommended methods for red-cell enzyme analysis.

Authors: E Beutler; K G Blume; J C Kaplan; G W Löhr; B Ramot; W N Valentine
Journal: Br J Haematol Date: 1977-02 Impact factor: 6.998

7. Where is the gene for GALT?

Authors: M T Mulcahy; R G Wilson
Journal: Hum Genet Date: 1980 Impact factor: 4.132

8. Expression of GALT in 9p chromosome alterations: assignment of GALT locus to 9cen leads to 9p22.

Authors: R S Sparkes; M C Sparkes; S J Funderburk; S Moedjono
Journal: Ann Hum Genet Date: 1980-05 Impact factor: 1.670

9. Improved technique for electrophoresis of human galactose-1-p uridyl transferase (EC 2.7.7.12).

Authors: M C Sparkes; M Crist; R S Sparkes
Journal: Hum Genet Date: 1977-12-29 Impact factor: 4.132

10. Assignment of the human gene for galactose-1-phosphate uridyltransferase to chromosome 9: studies with Chinese hamster-human somatic cell hybrids.

Authors: T Mohandas; R S Sparkes; M C Sparkes; J D Shulkin
Journal: Proc Natl Acad Sci U S A Date: 1977-12 Impact factor: 11.205