Linkage of polymorphic congenital cataract to the γ-crystallin gene locus on human chromosome 2q33-35

Human Molecular Genetics

Volumn 5, Issue 5, 1996, Pages 699-703

  Rogaev, Evgeny I ^a,b   Rogaeva, Ekaterina A ^b   Korovaitseva, Galina I ^a   Farrer, Lindsay A ^c   Petrin, Alexander N ^d   Keryanov, Sergey A ^a   Turaeva, Shirine ^d   Chumakov, Ilya ^e   St George Hyslop, Peter ^b   Ginter, Eugeny K ^d  

^a MENTAL HEALTH RESEARCH CENTER   (Russian Federation)

^b UNIVERSITY OF TORONTO   (Canada)

^c BOSTON UNIVERSITY SCHOOL OF MEDICINE   (United States)

^d RESEARCH CENTRE FOR MEDICAL GENETICS   (Russian Federation)

^e Ctr d'Etud du Polymorphisme Humain 27 Rue Juliette Dodu 75010   (France)

Author keywords

[No Author keywords available]

Indexed keywords

DNA MARKER; GAMMA CRYSTALLIN; MICROSATELLITE DNA;

ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; CATARACT; CHROMOSOME 2Q; CONGENITAL CATARACT; CONTROLLED STUDY; FEMALE; GENE CLUSTER; GENE LOCATION; GENE LOCUS; GENE MAPPING; GENETIC LINKAGE; HUMAN; HUMAN CELL; MAJOR CLINICAL STUDY; MALE; PENETRANCE; PHENOTYPE; PRIORITY JOURNAL;

CATARACT; CHROMOSOMES, HUMAN, PAIR 2; CRYSTALLINS; DATABASES, FACTUAL; FEMALE; GENES, DOMINANT; HUMANS; LINKAGE (GENETICS); MALE; PEDIGREE; PHENOTYPE; POINT MUTATION; POLYMORPHISM, GENETIC;

EID: 9244251074     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/5.5.699     Document Type: Article

References (37)

1. World Health Organization Programme Advisory Group (1989) In Report of the Eighth Meeting of the Who Programme Advisory Group on the prevention of blindness. Geneva, Switzerland: World Health Organization, WHO publication 89.17
2. Foster, A. and Johnson, G.J. (1990) Magnitude and causes of blindness in the developing world. Int. Ophthalmol., 14, 135-140
3. Wheeler, P.G. Dobins, WB., Plager D.A , Ellis, F D. (1993) Familial remitting chorea, nystagmus, and cataracts. Am. J. Med. Genet., 47, 1215-1217.
4. Martsolf, J.T., Hunter, A G W and Haworth, J.C. (1978) Severe mental retardation, cataracts, short stature and primary hypogonadism in two brothers. Am. J. Med. Genet., 1, 291-299.
5. Hiller, R , Sperdutto, R. D. and Ederer F. (1986) Epidemiologic associations with nuclear, cortical and posteriar subscapular cataracts. Am. J. Epidemiol., 124, 541-553
6. Leske, M. C., Chylack, L.T. and Wu S. (1991) The lens opacities case control study risk factors for cataract. Arch. Ophthalmol., 109, 244-251.
7. McKusick, V.A. (1988) Mendelian inheritance in Man. Baltimore, London: John Hopkins University Press, 8th edn.
8. Nettleship, E. and Ogilvie, FM (1906) A peculiar form of hereditary congenital cataract. Trans. Ophthal. Soc. UK, 26, 191-206.
9. Jankiewics, H. and Freeberg, D.D (1956) A six generation pedigree of congenital zonular cataract. Am. J. Optom., 33, 555-557.
10. Lee, J.B. and Benedict, W.L. (1950) Hereditary nuclear cataract. Arch. Ophthal., 44, 643-650.
11. Brown, A.L. (1924) Hereditary cataract Am. J. Ophthal., 7, 36-38.
12. Ginter, E.K., Turaeva, Sh.M., Revasov, A.A., Panteleeva, O.A., Artikov, A. and Michailova, L.K. (1983) Medical-genetic studies of the Turkmen population. III. Hereditary disorders among Turkmen-Nokhurli. Genetika, 19, 1344-1352.
13. Green, M.C. (1989) Catalog of mutant genes and polymorphic loci. In Genetic Variants and Strains of the Laboratory Mouse. London/New York: Oxford University Press, 2nd edn. 12-403.
14. Eiberg, H., Marner, E., Rosenberg, T. and Mohr, J. (1988) Marner cataract (CAM) assigned to chromosome 16: linkage to haptoglobin. Clin. Genet., 34, 272-275.
15. Richards, J., Maumenee, I.H , Rowe, S. and Lovrien, E. W (1984) Congenital cataract possibly linked to haptoglobin. Cytogenet. Cell Genet., 37, 570.
16. Conneally, P.M., Wilson, A.F., Merritt, A.D., Helveston, E.M., Palmer, C.G. and Wang, L.V. (1978) Confirmation of genetic heterogeneity in autosomal dominant forms of congenital cataracts from linkase studies. Cytogenet. Cell. Genet., 22, 295-297.
17. Renwick, J.H. and Lawler, S.D (1963) Probable linkage between a congenital cataract locus and the Duffy blood group locus. Ann. Hum. Genet., 27, 67-84.
18. Lubsen, N.H., Renwick, J.H , Tsui, L.-C., Breitman, M.L. and Schoenmakers, J.G. (1986) A locus for a human hereditary cataract is closely linked to the γ-crystallin gene family Proc. Natl Acatl Sci. 84, 489-492.
19. Armitage, M M., Kilvin, J.D. and Ferrell, R (1995) A progressive early onset cataract gene maps to human chromosome 17q24. Nature Genet., 9, 112-116
20. Cartier, M., Tsui, L-C., Ball, S.P. and Lubsen, N.H. (1993) Crystallin genes and cataract. In (A.F. Wright and B. Jay, eds) Molecular Genetics of Inherited Eye Disorders. Switzerland: Harwood Academic Publishers, 413-443.
21. Berman, E.R. (1991) Biochemistry of the Eye. New York, Plenum Press, 201-209.
22. Quax-Jeuken, Y., Quax, W., van Rens, G., Meera Khan, P. and Bloemendal, H. (1985) Assignment of the human αA-crystallin gene (CRYA1) to chromosome 21. Cytogenet. Cell Genet., 40, 727-728.
23. Sparkers, R.S., Mohondas, T., Heinzmann, C., Gorin, M.B., Zollman, S. and Horwitz, J. (1986) Assignment of human β-crystallin gene to 17cen-q23. Hum. Genet., 74, 133-136.
24. Shiloh, Y , Donlon, T., Bruns, G., Breitman, M.L. and Tsui, L-C. (1986) Assignment of the human γ-crystallin gene cluster (CRYG) to the long arm of chromosome 2. region q33-q36. Hum. Genet , 73, 17-19.
25. Willard, H.F , Meakin, S.O , Tsui, L-C. and Breitman, M L (1985) Assignment of the human γ-crystallin multigene family to chromosome 2. Som. Cell Mol. Genet , 11, 511-516.
26. Ginter, E.K., Petrin, A.N., Spitzin, V.A. and Rogaev, E.I. (1991) An attempt of mappings human autosomal dominant congenital cataract gene by linkage study. Genetika, 27, 1840-1849
27. Chumakov I. and Collaborative group. (1992) Continuum of overlapping clones spanning the entire human chromosome 21q. Nature, 359, 380-386.
28. Brakenhoff, R H., Aarts, H.J., Reek, F. H., Lubsen, N.H. and Schoenmakers, J.G.G. (1990) The human γ-crystallin genes, a gene family on its way to extinction. J. Mol Biol., 216, 519-532.
29. Stambolian, D., Ai, Y., Sidjanin, D., Nesburn, K., Sathe, G., Rosenberg, M. and Bergsms, D.J (1995) Cloning of the galactokinase cDNA and identification of mutations in two families with cataracts Nature Genet., 10, 307-312.
30. Cartier, M., Breitman, M.L., and Tsui, L-C. (1992) A frameshift mutation in the γ-crystallin gene of the Elo mouse. Nature Genet., 2, 42-45.
31. Brakenhoff, R. H., Henskens, H.A.M., van Rossum, M.W.P.C., Lubsen, N.H. and Schoenmakers, J.G.G. (1994) Activation of the γE-crystallin pseudogene in the human hereditary Coppock-like cataract. Hum. Mol. Genet., 3, 279-283.
32. Everett, C A., Glenister, P.H., Taylor, D. M., Lyon, M.F., Kratochvilova-Loester, J. and Favor, J (1994) Mapping of six dominant cataract genes in the mouse. Genomics, 20, 429-434.
33. Loster, J., Pretsch, W., Sandulache, R., Schmitt-John T., Lyon, M.F. and Graw, J. (1994) Close linkage of the dominant cataract mutations (Cat-2) with idh-1 and Cryge on mouse chromosome 1. Genomics 23, 240-242.
34. Rogaev, E.I., Shlensky, A.B. and Spoonde, A. (1991) Individual-specific patterns of human variable genomic regions detected by a DNA probe from HIV-I env gene. Biomed. Sci., 2, 311-314.
35. Rogaev, E.I., Rogaeva, E., Ginter, E.K., Korovaitseva, G., Farrer, L., Shlensky, A., Pritkov A.N., Mordovtsev, V.N. and St. George-Hyslop, P. (1993) Identification of the genetic locus for keratosis palmaris and plantaris on chromosome 17 near the RARA and keratin type I genes. Nature Genet., 5, 158-162.
36. NIH/CEPH Collaborative group. (1992) A comprehensive genetic linkage map of the human genome. Science, 258, 148-162.
37. Todd, S., Sherman, S.L and Naylor, S L. (1993) Dinucleotide repeat loci contribute highly informative genetic markers to the human chromosome 2 linkage map. Genomics, 16, 612-618.