Journal of Genetics

, Volume 81, Issue 3, pp 91–98 | Cite as

Endogamy, consanguinity and community genetics

  • A. H. Bittles


The population of India is composed of many thousands of subpopulations, divided by geography, language, religion and caste or biraderi (patrilineage) boundaries, with endogamous marriage the norm. The net effect has been the creation of multiple genetic isolates with individual mutation profiles, but to date the clinical consequences of this highly complex differentiation have been largely ignored. In contrast, the topic of consanguinity continues to attract attention among medical and population geneticists, clinicians and social scientists. The significant progress made in India in improving childhood nutritional status and combating infectious disease means that genetic disorders have assumed everincreasing importance. In populations where consanguineous marriage is widely practised, recessive genetic disorders will continue to gain greater prominence in the overall spectrum of ill health. At the same time this increase will in part be negated by urbanization and the move to smaller family sizes, which predictably will result in a decline in the prevalence of consanguineous unions. Developing an understanding of these changes will require a wide-ranging and multidisciplinary investigative approach for which community genetics is ideally suited.


Familial Adenomatous Polyposis Consanguineous Marriage Muslim Population Community Genetic Small Family Size 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.


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  1. Agarwal S. S., Singh U., Singh P. S., Singh S. S., Das V., Sharma A., Mehra P., Chandravati, Malik G. K. and Misra P. K. 1991 Prevalence and spectrum of congenital malformations in a prospective study at a teaching hospital.Indian J. Med. Res. B94, 413–419.Google Scholar
  2. Ahmed S., Saleem M., Modell B. and Petrou M. 2002 Screening extended families for genetic hemoglobin disorders in Pakistan.New Engl. J. Med. 347, 1162–1168.PubMedCrossRefGoogle Scholar
  3. Appaji Rao N., Savithri H. S., Radha Rama Devi A. and Bittles A. H. 1998 Consanguinity—a common human heritage? The effects on the health and well-being of Indian populations. InThe Indian human heritage (ed. D. Balasubramanian and N. Appaji Rao), pp. 11–21. Universities Press, Hyderabad.Google Scholar
  4. Appaji Rao N., Savithri H. S. and Bittles A. H. 2002 A genetic perspective on the South Indian tradition of consanguineous marriage. InAustral-Asian encounters (ed. C. Vanden Driesen and S. Nandan), pp. 326–341. Prestige Books, New Delhi.Google Scholar
  5. Asha Bai P. V., Jacob John T. and Subramaniam V. R. 1981 Reproductive wastage and developmental disorders in relation to consanguinity in South India.Trop. Geogr. Med. 33, 275–280.Google Scholar
  6. Audinarayana N. and Krishnamoorthy S. 2000 Contribution of social and cultural factors to the decline in consanguinity in South India.Soc. Biol. 47, 189–200.PubMedGoogle Scholar
  7. Badaruddoza and Afzal M. 1995 Effects of inbreeding on marriage payment in North India.J. Biosocial Sci. 27, 333–337.Google Scholar
  8. Badaruddoza, Afzal M. and Akhtaruzzaman 1994 Inbreeding and congenital heart disease in a North Indian population.Clin. Genet. 45, 288–291.PubMedCrossRefGoogle Scholar
  9. Bamshad M. J., Watkins W. S., Dixon M. E., Jorde L. B., Bhaskara Rao B., Naidu J. M., Prasad B. V. R., Rasanayagam A. and Hammer M. F. 1998 Female gene flow stratifies Hindu castes.Nature 395, 651–652.PubMedCrossRefGoogle Scholar
  10. Bamshad M. J., Kivisild T., Watkins W. S., Dixon M. E., Ricker C. E., Rao B. al. 2001 Genetic evidence on the origins of Indian caste populations.Genome Res. 11, 1574–1585.CrossRefGoogle Scholar
  11. Basu S. K. 1975 Effect of consanguinity among North Indian Muslims.J. Popul. Res. 2, 57–68.PubMedGoogle Scholar
  12. Bennett R., Motulsky A. G., Bittles A. H., Hudgins L., Uhrich S., Lochner Doyle D., Silvey K., Scott R. C., Cheng E., McGillivray B., Steiner R. D. and Olson D. 2002 Genetic counseling and screening of consanguineous couples and their offspring: Recommendations of the National Society of Genetic Counselors.J. Genet. Counsel. 11, 97–119.CrossRefGoogle Scholar
  13. Bhasin M. K., Walter H. and Danker-Hopfe H. 1992The distribution of genetical, morphological and behavioural traits among the peoples of Indian region, pp. 14–35. Kamla-Raj, Delhi.Google Scholar
  14. Bhattacharya N. P., Basu P., Das M., Pramanik S., Banerjee R., Roy B., Roychoudhury S. and Majumder P. P. 1999 Negligible male gene-flow across ethnic boundaries in India, revealed by analysis of Y-chromosomal DNA polymorphisms.Genome Res. 9, 711–719.Google Scholar
  15. Bittles A. H. 1994 The role and significance of consanguinity as a demographic variable.Popul. Dev. Rev. 20, 561–584.CrossRefGoogle Scholar
  16. Bittles A. H. 1998 Empirical estimates of the prevalence of consanguineous marriage in contemporary societies. Working Report no. 74, Morrison Institute for Population and Resource Studies, Stanford University, Stanford, USA.Google Scholar
  17. Bittles A. H. 2001 Consanguinity and its relevance to clinical genetics.Clin. Genet. 60, 89–98.PubMedCrossRefGoogle Scholar
  18. Bittles A. H. and Hussain R. 2000 An analysis of consanguineous marriage in the Muslim population of India at regional and state levels.Ann. Hum. Biol. 27, 163–171.PubMedCrossRefGoogle Scholar
  19. Bittles A. H. and Makov E. 1988 Inbreeding in human populations: assessment of the costs. InMating patterns (ed. C. G. N. Mascie-Taylor and A. J. Boyce), pp. 153–167. Cambridge University Press, Cambridge.Google Scholar
  20. Bittles A. H. and Neel J. V. 1994 The costs of human inbreeding and their implications for variations at the DNA level.Nature Genet. 8, 117–121.PubMedCrossRefGoogle Scholar
  21. Bittles A. H., Mason W. M., Greene J. and Appaji Rao N. 1991 Reproductive behaviour and health in consanguineous marriages.Science 252, 789–794.PubMedCrossRefGoogle Scholar
  22. Bittles A. H., Coble J. M. and Appaji Rao N. 1993 Trends in consanguineous marriage in Karnataka, South India, 1980–1989.J. Biosocial Sci. 25, 111–116.Google Scholar
  23. Bittles A. H., Grant J. C., Sullivan S. G. and Hussain R. 2002 Does inbreeding lead to decreased human fertility?Ann. Hum. Biol. 29, 111–130.PubMedCrossRefGoogle Scholar
  24. Census of India 1901, 1903 Volume 24, Mysore Part-1 Report (ed. T. Ananda Row), p. 454. Office of the Superintendent of Government Printing, Bangalore.Google Scholar
  25. Census of India 1921, 1923 Punjab and Delhi, Part-I Report (ed. L. Middleton and S. M. Jacob), volume 15, pp. 328–330. Civil and Military Gazette Press, Lahore.Google Scholar
  26. Centerwall W. R. and Centerwall S. A. 1966 Consanguinity and congenital anomalies in South India: a pilot study.Indian J. Med. Res. 54, 1160–1167.PubMedGoogle Scholar
  27. Chakravarti M. R. 1968 Consanguinity in India.Z. Morphol. Anthropol. 60, 170–183.Google Scholar
  28. Chen A., Wayne S., Bell A., Ramesh A., Srikumari Srisailapathy C. R., Scott D. al. 1997 New gene for autosomal recessive non-syndromic hearing loss maps to either chromosome 3q or 19p.Am. J. Med. Genet. 71, 467–471.PubMedCrossRefGoogle Scholar
  29. Gadgil M., Joshi N. V., Manoharan S., Patil S. and Prasad U. V. S. 1998 Peopling of India. InThe Indian human heritage (ed. D. Balasubramanian and N. Appaji Rao), pp. 100–129. Universities Press. Hyderabad.Google Scholar
  30. Gnanalingham M. G., Gnanalingham K. K. and Singh A. 1999 Congenital heart disease and parental consanguinity in South India.Acta Paediatr. 88, 473–474.PubMedCrossRefGoogle Scholar
  31. Haldane J. B. S. 1963 The implications of genetics for human society. InGenetics today: proceedings of the 11th International Congress of Genetics (ed. S. J. Geerts), pp. 91–102. Pergamon Press, The Hague.Google Scholar
  32. Hornby S. J., Dandona L., Foster A., Jones R. B. and Gilbert C. E. 2001 Clinical findings, consanguinity and pedigrees in children with anophtalmos in southern India.Dev. Med. Child Neurol. 43, 392–398.PubMedCrossRefGoogle Scholar
  33. Hussain R. 1999 Community perceptions of reasons for preference for consanguineous marriages in Pakistan.J. Biosocial Sci. 31, 449–461.CrossRefGoogle Scholar
  34. Hussain R. and Bittles A. H. 1998 The prevalence and demographic characteristics of consanguineous marriages in Pakistan.J. Biosocial Sci. 30, 261–279.CrossRefGoogle Scholar
  35. Hussain R. and Bittles A. H. 2000 Sociodemographic correlates of consanguineous marriage in the Muslim population of India.J. Biosocial Sci. 32, 433–442.CrossRefGoogle Scholar
  36. Hussain R., Bittles A. H. and Sullivan S. 2001 Consanguinity and early mortality in the Muslim populations of India and Pakistan.Am. J. Hum. Biol. 13, 777–787.PubMedCrossRefGoogle Scholar
  37. IIPS 1995National Family and Health Survey, India, 1992-93. International Institute for Population Sciences, Bombay.Google Scholar
  38. Jain V. K., Nalini P., Chandra R. and Srinivasan S. 1993 Congenital malformations, reproductive wastage and consanguineous mating.Aust. N. Z. J. Obstet. Gynaecol. 33, 33–36.PubMedGoogle Scholar
  39. Joseph S. and Mathew P. M. 1991 Consanguinity studies in the Mudugars of Attappady, Kerala.J. Cytol. Genet. 26, 1–4.Google Scholar
  40. Kapadia K. M. 1958Marriage and family in India (2nd edition), pp. 117–137. Oxford University Press, Calcutta.Google Scholar
  41. Kulkarni M. L., Mathew M. A. and Reddy V. 1989 The range of neural tube defects in southern India.Arch. Dis. Child. 64, 210–214.CrossRefGoogle Scholar
  42. Liede A., Malik I. A., Aziz Z., de los Rios P., Kwan E. and Narod S. A. 2002 Contribution ofBRCA1 andBRCA2 mutations to breast and ovarian cancer in Pakistan.Am. J. Hum. Genet. 71, 595–606.PubMedCrossRefGoogle Scholar
  43. Majumder P. P., Roy B., Banerjee S., Chakraborty M., Dey B., Mukherjee N., Roy M., Thakurta P. G. and Sil S. K. 1999 Human-specific insertion/deletion polymorphisms in Indian populations and their possible evolutionary implications.Eur. J. Hum. Genet. 7, 435–446.PubMedCrossRefGoogle Scholar
  44. Modell B. and Darr A. 2002 Genetic counselling and customary consanguineous marriage.Nature Rev. Genet. 3, 225–229.CrossRefPubMedGoogle Scholar
  45. Panicker S. G., Reddy A. B. M., Mandal A. K., Ahmed N., Nagarajaram H. A., Hasnain S. E. and Balasubramaniam D. 2002 Identification of novel mutations causing familial primary congenital glaucoma in Indian pedigrees.Invest. Ophthalmol. Vis. Sci. 43, 1358–1366.PubMedGoogle Scholar
  46. PRB 2002 World population data sheet. Population Reference Bureau, Washington, DC.Google Scholar
  47. Puri R. K., Verma I. C. and Bhargava B. K. 1978 Effects of consanguinity in a community in Pondicherry. InMedical genetics in India (ed. I. C. Verma), vol. 2, pp. 129–139. Auroma Enterprises, Pondicherry.Google Scholar
  48. Radha Rama Devi A., Appaji Rao N. and Bittles A. H. 1982 Inbreeding in the State of Karnataka, South India.Hum. Hered. 32, 8–10.Google Scholar
  49. Rahi J. S., Sripathi S., Gilbert C. E. and Foster A. 1995 Childhood blindness in India: causes in 1318 blind school students in nine states.Eye 9, 545–550.PubMedGoogle Scholar
  50. Rao P. S. S. 1984 Inbreeding in India: concepts and consequences. InThe people of India (ed. J. R. Lukacs), pp. 239–268. Plenum, New York.Google Scholar
  51. Rao P. S. S. and Inbaraj S. G. 1977 Inbreeding in Tamil Nadu, South India.Soc. Biol. 24, 281–288.PubMedGoogle Scholar
  52. Roychoudhury A. K. 1976 Incidence of inbreeding in different states of India.Demogr. India 5, 108–119.Google Scholar
  53. Roychoudhury A. K. 1979 The incidence of affinal marriages in different states of India.Demogr. India 8, 211–216.Google Scholar
  54. Roychoudhury S., Roy S., Dey B., Chakraborty M., Roy M., Roy B., Ramesh A., Prabhakaran N., Usha Rani M. V., Vishwanathan H., Mitra M., Sil S. K. and Majumder P. P. 2000 Fundamental genomic unity of ethnic India is revealed by analysis of mitochondrial DNA.Curr. Sci. 79, 1182–1192.Google Scholar
  55. Sanghvi L. D. 1966 Inbreeding in India.Eugen. Quart. 13, 291–301.PubMedGoogle Scholar
  56. Sastri K. A. N. 1976A history of South India: from prehistoric times to the fall of Vijayanagar (4th edition), p. 66. Oxford University Press, Madras.Google Scholar
  57. Savithri H. S., Venkatesha Murthy H. S., Baskaran G., Appaji Rao N., Kool D., Edkins E., Wang W. and Bittles A. H. 2000 Predictive testing for familial adenomatous polyposis in a rural South Indian community.Clin. Genet. 58, 57–60.PubMedCrossRefGoogle Scholar
  58. Shami S. A., Qaisar R. and Bittles A. H. 1991 Consanguinity and adult morbidity in Pakistan.Lancet 338, 954–955.PubMedCrossRefGoogle Scholar
  59. Shami S. A., Grant J. C. and Bittles A. H. 1994 Consanguineous marriage within social/occupational class boundaries in Pakistan.J. Biosocial Sci. 26, 91–96.Google Scholar
  60. Singh B. and Tyagi D. 1987 Studies on inbreeding in India.Hum. Sci. 36, 159–174.Google Scholar
  61. Srinivasan S. and Mukherjee D. P. 1976 Inbreeding among some Brahman populations of Tamil Nadu.Hum. Hered. 26, 131–136.PubMedCrossRefGoogle Scholar
  62. Vézina H., Heyer E., Fortier I., Quellette G., Robitaille Y. and Gauvreau D. 1999 A genealogical study of Alzheimer Disease in the Saguenay region of Quebec.Genet. Epidemiol. 16, 412–425.PubMedCrossRefGoogle Scholar
  63. Wang W., Sullivan S. G., Ahmed S., Chandler D., Zhivotovsky L. A. and Bittles A. H. 2000 A genome-based study of consanguinity in three co-resident endogamous Pakistan communities.Ann. Hum. Genet. 64, 41–49.PubMedCrossRefGoogle Scholar
  64. Wilcox A. J. and Horney L. F. 1984 Accuracy of spontaneous recall.Am. J. Epidemiol. 120, 727–733.PubMedGoogle Scholar

Copyright information

© Indian Academy of Sciences 2002

Authors and Affiliations

  • A. H. Bittles
    • 1
  1. 1.Centre for Human GeneticsEdith Cowan UniversityPerthAustralia

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