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Literature DB >> 7783180

Linkage refinement localises Sorsby fundus dystrophy between markers D22S275 and D22S278.

C Y Gregory¹, S Wijesuriya, K Evans, M Jay, A C Bird, S S Bhattacharya.

Abstract

Sorsby fundus dystrophy is an autosomal dominant disorder which both clinically and histopathologically bears striking similarities to age related macular degeneration, one of the leading causes of blindness in the developed world. Recent studies have suggested a genetic localisation of the disease to chromosome 22q in a large genetic interval of approximately 25 cM. Independent genetic linkage analysis in a six generation British pedigree confirms linkage to the chromosome 22q region. A maximum two point lod score of 7.09 with no recombination was obtained with marker D22S280. Haplotype data positioned the disease between loci D22S275 and D22S278, thus significantly reducing the region on chromosome 22q where the gene is located.

Entities: Disease

Mesh：

Substances：
Genetic Markers

Year: 1995 PMID： 7783180 PMCID： PMC1050328 DOI： 10.1136/jmg.32.3.240

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

11 in total

1. A fundus dystrophy with unusual features.

Authors: A SORSBY; M E J MASON
Journal: Br J Ophthalmol Date: 1949-02 Impact factor: 4.638

2. Choroidal perfusion abnormality with age-related Bruch's membrane change.

Authors: D Pauleikhoff; J C Chen; I H Chisholm; A C Bird
Journal: Am J Ophthalmol Date: 1990-02-15 Impact factor: 5.258

3. The 1993-94 Généthon human genetic linkage map.

Authors: G Gyapay; J Morissette; A Vignal; C Dib; C Fizames; P Millasseau; S Marc; G Bernardi; M Lathrop; J Weissenbach
Journal: Nat Genet Date: 1994-06 Impact factor: 38.330

4. Chromosomal mapping of A1 and A2 adenosine receptors, VIP receptor, and a new subtype of serotonin receptor.

Authors: F Libert; E Passage; M Parmentier; M J Simons; G Vassart; M G Mattei
Journal: Genomics Date: 1991-09 Impact factor: 5.736

5. Sorsby's fundus dystrophy. A light and electron microscopic study.

Authors: M R Capon; J Marshall; J I Krafft; R A Alexander; P S Hiscott; A C Bird
Journal: Ophthalmology Date: 1989-12 Impact factor: 12.079

6. Sorsby's fundus dystrophy is genetically linked to chromosome 22q13-qter.

Authors: B H Weber; G Vogt; W Wolz; E J Ives; C C Ewing
Journal: Nat Genet Date: 1994-06 Impact factor: 38.330

7. Cloning of the cDNA encoding human tissue inhibitor of metalloproteinases-3 (TIMP-3) and mapping of the TIMP3 gene to chromosome 22.

Authors: S S Apte; M G Mattei; B R Olsen
Journal: Genomics Date: 1994-01-01 Impact factor: 5.736

Linkage refinement localises Sorsby fundus dystrophy between markers D22S275 and D22S278.

1. A fundus dystrophy with unusual features.

2. Choroidal perfusion abnormality with age-related Bruch's membrane change.

3. The 1993-94 Généthon human genetic linkage map.

4. Chromosomal mapping of A1 and A2 adenosine receptors, VIP receptor, and a new subtype of serotonin receptor.

5. Sorsby's fundus dystrophy. A light and electron microscopic study.

6. Sorsby's fundus dystrophy is genetically linked to chromosome 22q13-qter.

7. Cloning of the cDNA encoding human tissue inhibitor of metalloproteinases-3 (TIMP-3) and mapping of the TIMP3 gene to chromosome 22.

8. Characterization of adenosine A1-receptor binding sites in bovine retinal membranes.

9. Strategies for multilocus linkage analysis in humans.

10. Sorsby's fundus dystrophy. A clinical study.

Review 1. Molecular genetics of macular dystrophies.

2. Sorsby fundus dystrophy without a mutation in the TIMP-3 gene.

3. Autosomal recessive Sorsby fundus dystrophy revisited: molecular evidence for dominant inheritance.