Literature DB >> 2999612

Localization of cystic fibrosis locus to human chromosome 7cen-q22.

B J Wainwright, P J Scambler, J Schmidtke, E A Watson, H Y Law, M Farrall, H J Cooke, H Eiberg, R Williamson.   

Abstract

Cystic fibrosis (CF) is the most common genetic disease in Caucasian populations, with an incidence of 1 in 2,000 live births in the United Kingdom, and a carrier frequency of approximately 1 in 20. The biochemical basis of the disease is not known, although membrane transport phenomena associated with CF have been described recently. Consanguinity studies have shown that the inheritance of CF is consistent with it being a recessive defect caused by a mutation at a single autosomal locus. Eiberg et al. have reported a genetic linkage between the CF locus and a polymorphic locus controlling activity of the serum aryl esterase paraoxonase (PON). The chromosomal location of PON, however, is not known. Linkage to a DNA probe, DOCR1-917, was also recently found at a genetic distance of approximately 15 centimorgans (L.-C. Tsui and H. Donnis-Keller, personal communication), but no chromosomal localization was given. Here we report tight linkage between the CF locus and an anonymous DNA probe, pJ3.11, which has been assigned to chromosome 7cen-q22.

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Year:  1985        PMID: 2999612     DOI: 10.1038/318384a0

Source DB:  PubMed          Journal:  Nature        ISSN: 0028-0836            Impact factor:   49.962


  164 in total

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3.  A 3' splice site consensus sequence mutation in the cystic fibrosis gene.

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4.  Fractional measurements of sweat osmolality in patients with cystic fibrosis.

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5.  Molecular genetics in the National Health Service in Britain.

Authors:  R Harris; R Elles; D Craufurd; A Dodge; A Ivinson; K Hodgkinson; R Mountford; M Schwartz; T Strachan; A Read
Journal:  J Med Genet       Date:  1989-04       Impact factor: 6.318

6.  An international survey of attitudes of medical geneticists toward mass screening and access to results.

Authors:  D C Wertz; J C Fletcher
Journal:  Public Health Rep       Date:  1989 Jan-Feb       Impact factor: 2.792

7.  Inheritance of human breast cancer: evidence for autosomal dominant transmission in high-risk families.

Authors:  B Newman; M A Austin; M Lee; M C King
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Review 8.  Medical genetics.

Authors:  M Super
Journal:  Postgrad Med J       Date:  1991-07       Impact factor: 2.401

Review 9.  Congenital bilateral absence of the vas deferens as an atypical form of cystic fibrosis: reproductive implications and genetic counseling.

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Journal:  Andrology       Date:  2017-12-07       Impact factor: 3.842

Review 10.  Cystic fibrosis: exploiting its genetic basis in the hunt for new therapies.

Authors:  James L Kreindler
Journal:  Pharmacol Ther       Date:  2009-11-10       Impact factor: 12.310

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