Do consanguineous parents of a child affected by an autosomal recessive disease have more DNA identical-by-descent than similarly-related parents with healthy offspring? Design of a case-control study.

BMC Medical Genetics
Marieke E TeeuwL P Ten Kate

Abstract

The offspring of consanguineous relations have an increased risk of congenital/genetic disorders and early mortality. Consanguineous couples and their offspring account for approximately 10% of the global population. The increased risk for congenital/genetic disorders is most marked for autosomal recessive disorders and depends on the degree of relatedness of the parents. For children of first cousins the increased risk is 2-4%. For individual couples, however, the extra risk can vary from zero to 25% or higher, with only a minority of these couples having an increased risk of at least 25%. It is currently not possible to differentiate between high-and low-risk couples. The quantity of DNA identical-by-descent between couples with the same degree of relatedness shows a remarkable variation. Here we hypothesize that consanguineous partners with children affected by an autosomal recessive disease have more DNA identical-by-descent than similarly-related partners who have only healthy children. The aim of the study is thus to establish whether the amount of DNA identical-by-descent in consanguineous parents of children with an autosomal recessive disease is indeed different from its proportion in consanguineous parents who have he...Continue Reading

References

Aug 6, 2003·American Journal of Human Genetics·Anne-Louise LeuteneggerElizabeth A Thompson
Mar 16, 2005·Community Genetics·A H Bittles
Apr 28, 2006·American Journal of Human Genetics·C Geoffrey WoodsChris F Inglehearn
Oct 19, 2006·Annals of Human Genetics·F LiuY S Aulchenko
Oct 7, 2009·Proceedings of the National Academy of Sciences of the United States of America·A H Bittles, M L Black

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Citations

Jun 30, 2014·Journal of Community Genetics·Joël Zlotogora, Stavit A Shalev
Oct 5, 2014·European Journal of Medical Genetics·Marieke TeeuwHanne Meijers-Heijboer
Sep 14, 2010·Early Human Development·A H Bittles, M L Black
Mar 15, 2018·The Cochrane Database of Systematic Reviews·Norita HusseinNadeem Qureshi
Aug 13, 2015·The Cochrane Database of Systematic Reviews·Norita HusseinNadeem Qureshi
Mar 8, 2014·International Journal of Nursing Knowledge·Nejla CanbulatMehtap Çoplu
May 11, 2011·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Hanan HamamyAlan H Bittles
Apr 11, 2021·Orphanet Journal of Rare Diseases·Mohammad Jakir HosenOlivier M Vanakker
Oct 12, 2021·The Cochrane Database of Systematic Reviews·Norita HusseinNadeem Qureshi

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