Genetic and segregation analysis of congenital cataract in the Indian population

Clinical Genetics

Volumn 56, Issue 5, 1999, Pages 389-393

  Vanita, ^a   Singh, Jai Rup ^a   Singh, Daljit ^b  

^a GURU NANAK DEV UNIVERSITY   (India)

^b Dr Daljit Singh Eye Hospital   (India)

Author keywords

Congenital cataract; Consanguinity; Inheriiance; Segregation analysis

Indexed keywords

ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; AUTOSOMAL RECESSIVE INHERITANCE; BLINDNESS; CONGENITAL CATARACT; CONSANGUINITY; FEMALE; GENE FREQUENCY; GENE SEGREGATION; HUMAN; HUMAN CELL; INDIA; INHERITANCE; MAJOR CLINICAL STUDY; MALE; PRIORITY JOURNAL; SEGREGATION ANALYSIS;

CATARACT; CHI-SQUARE DISTRIBUTION; CONSANGUINITY; FEMALE; HUMANS; INDIA; MALE; PEDIGREE;

EID: 0033371835     PISSN: 00099163     EISSN: None     Source Type: Journal    
DOI: 10.1034/j.1399-0004.1999.560507.x     Document Type: Article

References (22)

1. World Health Organization. Prevention of childhood blindness. WHO, Geneva, 1992.
2. Eckstein M, Vijayalakshmi P, Killedar M, Gilbert C, Foster A. Aetiology of childhood cataract in south India. Br J Ophthalmol 1996: 80: 628-632.
3. Paterson CA, Delamere NA. The lens. In: Hart WM, ed. Adler's Physiology of the Eye, 9th ed. St. Louis, MO. USA: Mosby Year Book, 1992: 348-390.
4. Jensen S, Goldschmidt E. Genetic counselling in sporadic cases of congenital cataract. Acta Ophthalmol 1971: 49: 572-576.
5. Francois J. Genetics of cataract. Ophthalmologica 1982: 184: 61-71.
6. Jain IS, Pillay P, Gangwar DN, Dhir SP, Kaul VK. Congenital cataract: Aetiology and morphology. J Pediatr Ophthalmol Strabismus 1983: 20: 238-242.
7. Angra SK. Aetiology and management of congenital cataract. Ind J Pediatr 1987: 54: 673-677.
8. McKusick VA. Mcndelian Inheritance in Man: Catalogs of Autosomal Dominant, Autosomal Recessive and X-linked Phenotypes, 10th ed. Baltimore, MD: The Johns Hopkins University Press, 1992.
9. Padma T, Murty JS, Siva Reddy P. Genetic heterogeneity in cataracts. Ind J Ophthalmol 1978: 26: 1-5.
10. Mostafa MS, Temtamy S, El Gammal MY, Sayed SI, Abdel Salam M. Genetic studies of congenital cataract. Metab Pediatr Ophthalmol 1981: 5: 233-242.
11. Forsius H, Arentz-Grastvedt B, Eriksson AW. Juvenile cataract with autosomal recessive inheritance. A study from the Aland Island, Finland. Acta Ophthalmol 1992: 70: 26-32.
12. Lund A, Eiberg H, Rosenburg T, Warburg M. Autosomal dominant congenital cataract: Linkage relations, clinical and genetic heterogenity. Clin Genet 1992: 41: 65-69.
13. Scott MH, Hejtmancik JF, Wozencraft LA, Reuter LM, Parks MM, Kaiser-Kupfer MI. Autosomal dominant congenital cataract: Interocular phenotypic variability. Ophthalmology 1994: 101: 866-871.
14. Shiels A, Mackay D. Ionides A, Berry V, Moore A, Bhattacharya S. A missense mutation in the human connexin50 gene (GJA8) underlies autosomal dominant 'Zonular pulverulent' cataract, on chromosome Iq. Am J Hum Genet 1999: 62: 526-532.
15. Neel JV, Schull WJ. Human Heredity. Chicago: University of Chicago Press, 1954.
16. Fisher RA. The effect of methods of ascertainment upon the estimation of frequencies. Ann Eugen 1934: 6: 13-25.
17. Emery AEH. Methodology in Medical Genetics, 2nd ed. Edinburgh: Churchill Livingstone, 1986: 37-54.
18. Kar B, John S, Kumaramanickavel G. Retinitis Pigmentosa in India: A genetic and segregation analysis. Clin Genet 1995: 47: 75-79.
19. Lambert SR. Drack AV. Infantile cataracts. Surv Ophthalmol 1996: 40: 427-458.
20. Bittles AH, Mason WM, Greene J, Rao AN. Reproductive behavior and health in consanguineous marriages. Science 1991: 252: 789-794.
21. Summers CG, Letson RD. Is the phakic eye normal in monocular pediatric aphakia? J Pediatr Ophthalmol Strabismus 1992: 29: 324-327.
22. Litt M, Krammer P, LaMorticella DM, Murphey W, Lovrien EW, Welcher RG. Autosomal dominant congenital cataract associated with a missense mutation in the human alpha crystallin gene CRYAA. Hum Mol Genet 1998: 7: 471-474.