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Literature DB >> 8644739

Linkage of a gene for macular corneal dystrophy to chromosome 16.

J M Vance¹, F Jonasson, F Lennon, J Sarrica, K F Damji, J Stauffer, M A Pericak-Vance, G K Klintworth.

Abstract

Autosomal recessive macular corneal dystrophy (MCD) is a heterogeneous disorder leading to visual impairment. Sixteen American and Icelandic families (11 type I and 5 type II) were analyzed for linkage, by use of 208 polymorphic microsatellite markers. A significant maximum LOD score Zmax of 7.82 at a maximum recombination fraction (thetamax) of .06 was found with the 16q22 locus D16S518 for MCD type I. In addition, a peak LOD score of 2.50 at a recombination fraction of .00 was obtained for the MCD type II families, by use of the identical marker. These findings raise the possibility that MCD type II may be due to the same genetic locus that is involved in MCD type I.

Entities: Disease Gene

Mesh：

Year: 1996 PMID： 8644739 PMCID： PMC1914688

Source DB: PubMed Journal: Am J Hum Genet ISSN： 0002-9297 Impact factor: 11.025

19 in total

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Journal: Ann Hum Genet Date: 1973-04 Impact factor: 1.670

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Journal: Eye (Lond) Date: 1989 Impact factor: 3.775

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Authors: S Chakravarti; R L Stallings; N SundarRaj; P K Cornuet; J R Hassell
Journal: Genomics Date: 1995-06-10 Impact factor: 5.736

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Authors: G M Lathrop; J M Lalouel; C Julier; J Ott
Journal: Proc Natl Acad Sci U S A Date: 1984-06 Impact factor: 11.205

6. Identification of a monoclonal antibody that specifically recognizes corneal and skeletal keratan sulfate. Monoclonal antibodies to cartilage proteoglycan.

Authors: B Caterson; J E Christner; J R Baker
Journal: J Biol Chem Date: 1983-07-25 Impact factor: 5.157

7. Linkage of Tunisian autosomal recessive Duchenne-like muscular dystrophy to the pericentromeric region of chromosome 13q.

Authors: K Ben Othmane; M Ben Hamida; M A Pericak-Vance; C Ben Hamida; S Blel; S C Carter; A M Bowcock; K Petruhkin; T C Gilliam; A D Roses
Journal: Nat Genet Date: 1992-12 Impact factor: 38.330

8. Macular corneal dystrophy. Lack of keratan sulfate in serum and cornea.

Authors: G K Klintworth; R Meyer; R Dennis; A T Hewitt; E L Stock; M E Lenz; J R Hassell; W J Stark; K E Kuettner; E J Thonar
Journal: Ophthalmic Paediatr Genet Date: 1986-12

9. Linkage of a locus (CMT4A) for autosomal recessive Charcot-Marie-Tooth disease to chromosome 8q.

Authors: K Ben Othmane; F Hentati; F Lennon; C Ben Hamida; S Blel; A D Roses; M A Pericak-Vance; M Ben Hamida; J M Vance
Journal: Hum Mol Genet Date: 1993-10 Impact factor: 6.150

10. Three autosomal dominant corneal dystrophies map to chromosome 5q.

Authors: E M Stone; W D Mathers; G O Rosenwasser; E J Holland; R Folberg; J H Krachmer; B E Nichols; P D Gorevic; C M Taylor; L M Streb
Journal: Nat Genet Date: 1994-01 Impact factor: 38.330

13 in total

Review 1. Current gene discovery strategies for ocular conditions.

Authors: Priya Duggal; Grace Ibay; Alison P Klein
Journal: Invest Ophthalmol Vis Sci Date: 2011-09-29 Impact factor: 4.799

2. Pathogenic mutations of TGFBI and CHST6 genes in Chinese patients with Avellino, lattice, and macular corneal dystrophies.

Authors: Ya-nan Huo; Yu-feng Yao; Ping Yu
Journal: J Zhejiang Univ Sci B Date: 2011-09 Impact factor: 3.066

3. Linkage of frontotemporal dementia to chromosome 17: clinical and neuropathological characterization of phenotype.

Authors: L H Yamaoka; K A Welsh-Bohmer; C M Hulette; P C Gaskell; M Murray; J L Rimmler; B R Helms; M Guerra; A D Roses; D E Schmechel; M A Pericak-Vance
Journal: Am J Hum Genet Date: 1996-12 Impact factor: 11.025

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Authors: N P Liu; J Baldwin; F Lennon; J M Stajich; E J Thonar; M A Pericak-Vance; G K Klintworth; J M Vance
Journal: Br J Ophthalmol Date: 1998-03 Impact factor: 4.638

Review 5. Functions of lumican and fibromodulin: lessons from knockout mice.

Authors: Shukti Chakravarti
Journal: Glycoconj J Date: 2002 May-Jun Impact factor: 2.916

Review 6. The IC3D classification of the corneal dystrophies.

Authors: Jayne S Weiss; H U Møller; Walter Lisch; Shigeru Kinoshita; Anthony J Aldave; Michael W Belin; Tero Kivelä; Massimo Busin; Francis L Munier; Berthold Seitz; John Sutphin; Cecilie Bredrup; Mark J Mannis; Christopher J Rapuano; Gabriel Van Rij; Eung Kweon Kim; Gordon K Klintworth
Journal: Cornea Date: 2008-12 Impact factor: 2.651