caa a22 4500 397574312 CHVBK 20180308164850.0 cr unu---uuuuu 161202e199605 xx s 000 0 eng 10.1093/hmg/5.5.699 doi (NATIONALLICENCE)oxford-10.1093/hmg/5.5.699 Linkage of Polymorphic Congenital Cataract to the γ-Crystallin Gene Locus on Human Chromosome 2q33-35 [Elektronische Daten] [Evgeny I. Rogaev, Ekaterina A. Rogaeva, Galina I. Korovaitseva, Lindsay A. Farrer, Alexander N. Petrin, Sergey A. Keryanov, Shirine Turaeva, Ilya Chumakov, Peter St. George-Hyslop, Eugeny K. Ginter] Cataract is one of the major causes of blindness in humans. We describe here an autosomal dominant polymorphic congenital cataract (PCC) which is characterised by wide variations in phenotype of non-nuclear lens opacities, even among affected members of the same family. PCC families included a large, unique pedigree (254 members, 103 affected individuals), and genetic linkage was conducted using a variety of polymorphic markers. Evidence for linkage was found for chromosome 2q33-35 with PCC mapping near D2S72 and TNP1. A tri-nucleotide microsatellite marker for γ-crystallin B gene (CRYG1) was found to co-segregate with PCC and yielded a maximum lod score of 10.62 at (θ = 0). A multipoint analysis demonstrated that the most probable location of the PCC gene was within an 8 cM genetic interval containing the γ-crystallin gene cluster. These data provide strong evidence of the existence of an autosomal dominant mutation for PCC in or near the γ-crystallin gene cluster. This defect is characterised by complete pene-trance but variable expression of the cataract pheno-type. Our study also suggests that non-nuclear human cataracts might be caused by some abnormality in γ-crystallin genes. © 1996 Oxford University Press Rogaev Evgeny I. Laboratory of Molecular Brain Genetics, Research Centre of Mental Health, Russian Academy of Medical Sciences, Zagorodnoe sh. 2/2, Moscow 113152, Russia aut Rogaeva Ekaterina A. Centre for Research in Neurodegenerative Diseases, Departments of Medicine and Neurology, University of Toronto, 6 Queen's Park, Toronto, Ontario M5S 1A8, Canada aut Korovaitseva Galina I. Laboratory of Molecular Brain Genetics, Research Centre of Mental Health, Russian Academy of Medical Sciences, Zagorodnoe sh. 2/2, Moscow 113152, Russia aut Farrer Lindsay A. Departments of Neurology and Epidemiology and Biostatistics, Boston University School of Medicine, 80E Concord St., Boston, Massachusetts 02118, USA aut Petrin Alexander N. Research Center of Medical Genetics, Institute of Clinical Genetics, Russian Academy of Medical Sciences, Moskvorechje 1, Moscow 115478, Russia aut Keryanov Sergey A. Laboratory of Molecular Brain Genetics, Research Centre of Mental Health, Russian Academy of Medical Sciences, Zagorodnoe sh. 2/2, Moscow 113152, Russia aut Turaeva Shirine Research Center of Medical Genetics, Institute of Clinical Genetics, Russian Academy of Medical Sciences, Moskvorechje 1, Moscow 115478, Russia aut Chumakov Ilya Centre d'Etude Polymorphisme Humaine, 27 Rue Juliette Dodu, Paris 75010, France aut George-Hyslop Peter St Centre for Research in Neurodegenerative Diseases, Departments of Medicine and Neurology, University of Toronto, 6 Queen's Park, Toronto, Ontario M5S 1A8, Canada aut Ginter Eugeny K. Research Center of Medical Genetics, Institute of Clinical Genetics, Russian Academy of Medical Sciences, Moskvorechje 1, Moscow 115478, Russia aut Human Molecular Genetics Oxford University Press 5/5(1996-05), 699-703 0964-6906 5:5<699 1996 5 hmg https://doi.org/10.1093/hmg/5.5.699 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1093/hmg/5.5.699 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Rogaev Evgeny I. Laboratory of Molecular Brain Genetics, Research Centre of Mental Health, Russian Academy of Medical Sciences, Zagorodnoe sh. 2/2, Moscow 113152, Russia aut NATIONALLICENCE 700 1- Rogaeva Ekaterina A. Centre for Research in Neurodegenerative Diseases, Departments of Medicine and Neurology, University of Toronto, 6 Queen's Park, Toronto, Ontario M5S 1A8, Canada aut NATIONALLICENCE 700 1- Korovaitseva Galina I. Laboratory of Molecular Brain Genetics, Research Centre of Mental Health, Russian Academy of Medical Sciences, Zagorodnoe sh. 2/2, Moscow 113152, Russia aut NATIONALLICENCE 700 1- Farrer Lindsay A. Departments of Neurology and Epidemiology and Biostatistics, Boston University School of Medicine, 80E Concord St., Boston, Massachusetts 02118, USA aut NATIONALLICENCE 700 1- Petrin Alexander N. Research Center of Medical Genetics, Institute of Clinical Genetics, Russian Academy of Medical Sciences, Moskvorechje 1, Moscow 115478, Russia aut NATIONALLICENCE 700 1- Keryanov Sergey A. Laboratory of Molecular Brain Genetics, Research Centre of Mental Health, Russian Academy of Medical Sciences, Zagorodnoe sh. 2/2, Moscow 113152, Russia aut NATIONALLICENCE 700 1- Turaeva Shirine Research Center of Medical Genetics, Institute of Clinical Genetics, Russian Academy of Medical Sciences, Moskvorechje 1, Moscow 115478, Russia aut NATIONALLICENCE 700 1- Chumakov Ilya Centre d'Etude Polymorphisme Humaine, 27 Rue Juliette Dodu, Paris 75010, France aut NATIONALLICENCE 700 1- George-Hyslop Peter St Centre for Research in Neurodegenerative Diseases, Departments of Medicine and Neurology, University of Toronto, 6 Queen's Park, Toronto, Ontario M5S 1A8, Canada aut NATIONALLICENCE 700 1- Ginter Eugeny K. Research Center of Medical Genetics, Institute of Clinical Genetics, Russian Academy of Medical Sciences, Moskvorechje 1, Moscow 115478, Russia aut NATIONALLICENCE 773 0- Human Molecular Genetics Oxford University Press 5/5(1996-05), 699-703 0964-6906 5:5<699 1996 5 hmg Metadata rights reserved CC BY-NC-4.0 http://creativecommons.org/licenses/by-nc/4.0 nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-oxford