Literature DB >> 10051159

NS22: a highly polymorphic complex microsatellite marker within the ATM gene.

N Udar1, S Farzad, L Q Tai, J O Bay, R A Gatti.   

Abstract

We have found a complex repeat sequence (NS22) that is highly polymorphic and located within intron 45 of the ataxia-telangiectasia gene (ATM). Sequencing this region from various individuals demonstrated two different polymorphic repeating units adjacent to one another. The fact that the sequence is located within the ATM gene provides a unique opportunity to follow segregation of affected and unaffected haplotypes for prenatal diagnosis of ataxia-telangiectasia. The high degree of polymorphism observed with this marker will also aid in evaluating loss of heterozygosity (LOH) across this region of the genome and may prove valuable in assessing the role of the ATM gene in susceptibility to cancer.

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Year:  1999        PMID： 10051159     DOI： 10.1002/(sici)1096-8628(19990212)82:4<287::aid-ajmg2>3.0.co;2-#

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN： 0148-7299


  4 in total

Review 1.  The pathogenesis of ataxia-telangiectasia. Learning from a Rosetta Stone.

Authors:  R A Gatti; S Becker-Catania; H H Chun; X Sun; M Mitui; C H Lai; N Khanlou; M Babaei; R Cheng; C Clark; Y Huo; N C Udar; R K Iyer
Journal:  Clin Rev Allergy Immunol       Date:  2001-02       Impact factor: 8.667

2.  Functional characterization and targeted correction of ATM mutations identified in Japanese patients with ataxia-telangiectasia.

Authors:  Kotoka Nakamura; Liutao Du; Rashmi Tunuguntla; Francesca Fike; Simona Cavalieri; Tomohiro Morio; Shuki Mizutani; Alfredo Brusco; Richard A Gatti
Journal:  Hum Mutat       Date:  2011-11-09       Impact factor: 4.878

3.  ATM variants 7271T>G and IVS10-6T>G among women with unilateral and bilateral breast cancer.

Authors:  J L Bernstein; L Bernstein; W D Thompson; C F Lynch; K E Malone; S L Teitelbaum; J H Olsen; H Anton-Culver; J D Boice; B S Rosenstein; A-L Børresen-Dale; R A Gatti; P Concannon; R W Haile
Journal:  Br J Cancer       Date:  2003-10-20       Impact factor: 7.640

4.  A-TWinnipeg: Pathogenesis of rare ATM missense mutation c.6200C>A with decreased protein expression and downstream signaling, early-onset dystonia, cancer, and life-threatening radiotoxicity.

Authors:  Kotoka Nakamura; Francesca Fike; Sara Haghayegh; Rachel Saunders-Pullman; Angelika J Dawson; Thilo Dörk; Richard A Gatti
Journal:  Mol Genet Genomic Med       Date:  2014-03-13       Impact factor: 2.183
  4 in total

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