Literature DB >> 3560174

New assignment of the adenosine deaminase gene locus to chromosome 20q13 X 11 by study of a patient with interstitial deletion 20q.

M B Petersen, L Tranebjaerg, N Tommerup, P Nygaard, H Edwards.   

Abstract

A karyotype 46,XY,del(20)(q11 X 23q13 X 11) was found in a three year old boy with mental and growth retardation, low set ears, broad nasal bridge, and macrostomia. Adenosine deaminase (ADA) activity was reduced by about 50%, assigning the gene locus to the deleted segment. A review of the previously reported regional assignments suggests that the ADA gene is in the region of band 20q13 X 11.

Entities:  

Mesh：

Substances：

Year:  1987        PMID： 3560174      PMCID： PMC1049896          DOI： 10.1136/jmg.24.2.93

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


  5 in total

1.  Report of the Committee on the Genetic Constitution of Chromosomes 20, 21, and 22.

Authors:  P Tippett; J C Kaplan
Journal:  Cytogenet Cell Genet       Date:  1985

2.  Confirmation of the regional localization of the genes for human acid alpha-glucosidase (GAA) and adenosine deaminase (ADA) by somatic cell hybridization.

Authors:  J Honig; F Martiniuk; P D'Eustachio; C Zamfirescu; R Desnick; K Hirschhorn; L R Hirschhorn; R Hirschhorn
Journal:  Ann Hum Genet       Date:  1984-01       Impact factor: 1.670

3.  [Partial monosomy 20q: a new syndrome. Regional assignment of the adenosine deaminase (ADA) locus on 20q132 (author's transl)].

Authors:  J Fraisse; M F Bertheas; F Frère; B Lauras; M O Rolland; C P Brizard
Journal:  Ann Genet       Date:  1981

4.  Detection of the carrier state in combined immunodeficiency disease associated with adenosine deaminase deficiency.

Authors:  C R Scott; S H Chen; E R Giblett
Journal:  J Clin Invest       Date:  1974-04       Impact factor: 14.808

5.  Human adenosine deaminase and chromosome 20.

Authors:  M B Van der Weyden; L Bailey; O M Garson
Journal:  Experientia       Date:  1978-04-15
  5 in total
  13 in total

Review 1.  Comparative map for mice and humans.

Authors:  J H Nadeau; M T Davisson; D P Doolittle; P Grant; A L Hillyard; M R Kosowsky; T H Roderick
Journal:  Mamm Genome       Date:  1992       Impact factor: 2.957

Review 2.  Mouse chromosome 2.

Authors:  L D Siracusa; C M Abbott
Journal:  Mamm Genome       Date:  1991       Impact factor: 2.957

Review 3.  Comparative map for mice and humans.

Authors:  J H Nadeau; M T Davisson; D P Doolittle; P Grant; A L Hillyard; M Kosowsky; T H Roderick
Journal:  Mamm Genome       Date:  1991       Impact factor: 2.957

4.  A novel de novo 20q13.32-q13.33 deletion in a 2-year-old child with poor growth, feeding difficulties and low bone mass.

Authors:  Meena Balasubramanian; Edward Atack; Kath Smith; Michael James Parker
Journal:  J Hum Genet       Date:  2015-03-12       Impact factor: 3.172

5.  Identification and characterization of nine RFLPs at the adenosine deaminase (ADA) locus.

Authors:  S Tzall; A Ellenbogen; F Eng; R Hirschhorn
Journal:  Am J Hum Genet       Date:  1989-06       Impact factor: 11.025

Review 6.  The map of chromosome 20.

Authors:  N E Simpson
Journal:  J Med Genet       Date:  1988-12       Impact factor: 6.318

7.  Expression of human adenosine deaminase in murine hematopoietic cells.

Authors:  J W Belmont; G R MacGregor; K Wager-Smith; F A Fletcher; K A Moore; D Hawkins; D Villalon; S M Chang; C T Caskey
Journal:  Mol Cell Biol       Date:  1988-12       Impact factor: 4.272

8.  A genotype-first approach for the molecular and clinical characterization of uncommon de novo microdeletion of 20q13.33.

Authors:  Ryan N Traylor; Damien L Bruno; Trent Burgess; Robert Wildin; Anne Spencer; Devika Ganesamoorthy; David J Amor; Matthew Hunter; Michael Caplan; Jill A Rosenfeld; Aaron Theisen; Beth S Torchia; Lisa G Shaffer; Blake C Ballif; Howard R Slater
Journal:  PLoS One       Date:  2010-08-27       Impact factor: 3.240

9.  Severe combined immune deficiency due to a homozygous 3.2-kb deletion spanning the promoter and first exon of the adenosine deaminase gene.

Authors:  T M Berkvens; E J Gerritsen; M Oldenburg; C Breukel; J T Wijnen; H van Ormondt; J M Vossen; A J van der Eb; P Meera Khan
Journal:  Nucleic Acids Res       Date:  1987-11-25       Impact factor: 16.971

10.  Pegademase bovine (PEG-ADA) for the treatment of infants and children with severe combined immunodeficiency (SCID).

Authors:  Claire Booth; H Bobby Gaspar
Journal:  Biologics       Date:  2009-07-13
View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.