Lack of evidence for genetic heterogeneity in Best vitelliform macular dystrophy.
نویسندگان
چکیده
4 Fanen P, Ghanem N, Vidaud M, et al. Molecular characterization of cystic fibrosis: 16 novel mutations identified by analysis of the whole cystic fibrosis conductance transmembrane regulator (CFTR) coding regions and splice site junctions. Genomics 1992;13:770-6. 5 Ferec C, Audrezet MP, Mercier B, et al. Detection of over 98% cystic fibrosis mutations in a Celtic population. Nat Genet 1992;1: 188-91. 6 Zielensli J, Rozmahel R, Bozon D, et al. Genomic DNA sequence of the cystic fibrosis transmembrane conductance regulator (CFTR) gene. Genomics 1991;10:214-28. 7 Dork T, Mekus F, Schmidt K, et al. Detection of more than 50 different CFTR mutations in a large group of German cystic fibrosis patients. Hum Genet 1994;94:533-42. 8 Chillon M, Casals T, Gimenez J, et al. Analysis of the CFTR gene confirms the high genetic heterogeneity of the Spanish population: 43 mutations account for only 78% of CF chromosomes. Hum Genet 1994;93:447-51. 9 The Cystic Fibrosis Genetic Analysis Consortium. Communicated by Kazazian HH Jr. Population variation of common cystic fibrosis mutations. Hum Mutat 1994;4: 167-77. 10 Fanen P, Ghanem N, Vidaud M, et al. Molecular characterization of cystic fibrosis: 16 novel mutations identified by analysis of the whole cystic fibrosis transmembrane conductance regulator (CFTR) coding regions and splice site junctions. Genomics 1992;13:770-6. 11 Dork T, Wulbrand U, Tummler B. A HinfI polymorphism in the cystic fibrosis gene CFTR. Nucleic Acids Res 1991;19:2517. 12 Welsh M, Tsui LC, Boat T, Beaudet A. Cystic fibrosis. In: Scriver C, Beaudet A, Sly W, Valle D, eds. The metabolic and molecular bases of inherited disease. 7th ed. New York: McGrawHill, 1995:3799-876.
منابع مشابه
Evidence for genetic heterogeneity in Best's vitelliform macular dystrophy.
Best's vitelliform macular dystrophy is an early onset, autosomal dominant macular degeneration. Linkage analysis has previously mapped a disease locus in this disorder to the pericentromeric region of chromosome 11. We examined two families, one of German and one of Irish origin, both affected with this disorder. The Irish family (BTMD1) showed strong evidence for linkage to the previously rep...
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In the November 1995 issue of the Journal, Mansergh et all suggest that there is genetic heterogeneity in the autosomal dominant eye disorder Best's vitelliform macular dystrophy (BMD) previously mapped to 1 1q13 (MIM 153700)."-' They analysed markers from chromosome 11 in two families, BTMD1 of Irish origin and Fam E of German origin. The conclusion was that the gene previously mapped to 11 qi...
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Best vitelliform macular dystrophy is the second most common type of hereditary fundus dystrophies. Our case report describes twin brothers of Afghan family who developed Best vitelliform macular dystrophy. One of them developed choroidal neovascularization in one eye which was treated with single intravitreal injection of bevacizumab. The patient showed stable vision and did not have any recur...
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PURPOSE To determine if a family in France, which manifests an autosomal dominant macular dystrophy, has North Carolina macular dystrophy (MCDR1) and to determine its possible molecular genetic relationship with the original North Carolina family. METHODS A family from Northern France with a macular dystrophy underwent comprehensive ophthalmic examinations and were ascertained for genetic stu...
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Best’s disease also termed as vitelliform macular dystrophy is an autosomal dominant sorder which classically presents in childhood with the striking appearance of a yellow or orange yolk like lesion in the macula. Dr Franz Best, a German ophthalmologist, described the first pedigree in 1905. A 23year old male with complain of gradual reduction of vision distortion of images and presence of bli...
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عنوان ژورنال:
- Journal of medical genetics
دوره 35 1 شماره
صفحات -
تاریخ انتشار 1998