Literature DB >> 2556802

Long-range restriction map around 11p13 aniridia locus.

L M Davis1, A M Everest, K O Simola, T B Shows.   

Abstract

Using two random DNA markers, and pulsed field gel electrophoresis, a 1.5-Mb physical map surrounding the 11p13 aniridia locus (AN2) has been assembled. The map was constructed using a combination of single- and double-restriction digests on DNA from normal controls and a patient transmitting familial aniridia. The aniridia patient has a chromosome translocation and the two DNA markers flank the breakpoint. This 11p13 breakpoint lies no further than 100 kb from the DNA marker 1104 (D11S95), located on the centromeric side of the breakpoint. Two CpG islands, separated by 550 kb and flanking the translocation, suggest an upper limit to the size of the gene.

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Year:  1989        PMID: 2556802     DOI: 10.1007/BF01534921

Source DB:  PubMed          Journal:  Somat Cell Mol Genet        ISSN: 0740-7750


  5 in total

1.  Somatic cell hybrid and long-range physical mapping of 11p13 microdissected genomic clones.

Authors:  L M Davis; G Senger; H J Lüdecke; U Claussen; B Horsthemke; S S Zhang; B Metzroth; K Hohenfellner; B Zabel; T B Shows
Journal:  Proc Natl Acad Sci U S A       Date:  1990-09       Impact factor: 11.205

2.  Facts on PAX.

Authors:  J W Pierpont; R P Erickson
Journal:  Am J Hum Genet       Date:  1993-03       Impact factor: 11.025

Review 3.  Aniridia: recent achievements in paediatric practice.

Authors:  I Ivanov; A Shuper; M Shohat; M Snir; R Weitz
Journal:  Eur J Pediatr       Date:  1995-10       Impact factor: 3.183

4.  Paired box mutations in familial and sporadic aniridia predicts truncated aniridia proteins.

Authors:  A Martha; R E Ferrell; H Mintz-Hittner; L A Lyons; G F Saunders
Journal:  Am J Hum Genet       Date:  1994-05       Impact factor: 11.025

5.  Identification of a novel frameshift mutation in PAX6 gene and the clinical management in an Asian Indian aniridia family.

Authors:  Isham Palayil; S G Priya; N V Sarath Sivan; Nivean Madhivanan; Panneer Selvam Venkatachalam; Madhavan Jagadeesan
Journal:  Indian J Ophthalmol       Date:  2018-02       Impact factor: 1.848

  5 in total

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