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CONSANGUINITY AND HOMOZYGOSITY AMONG TUNISIAN PATIENTS WITH AN AUTOSOMAL RECESSIVE DISORDER

Published online by Cambridge University Press:  29 January 2015

WIDED KELMEMI ,
IMENE CHELLY ,
MAHER KHARRAT  and
HABIBA CHAABOUNI-BOUHAMED
WIDED KELMEMI
Affiliation:
Laboratory of Human Genetics, Faculty of Medicine of Tunis, University of Tunis El Manar, Tunis, Tunisia
IMENE CHELLY
Affiliation:
Pediatric Department, Regional Hospital of Bizerte, Bizerte, Tunisia
MAHER KHARRAT
Affiliation:
Laboratory of Human Genetics, Faculty of Medicine of Tunis, University of Tunis El Manar, Tunis, Tunisia
HABIBA CHAABOUNI-BOUHAMED*
Affiliation:
Laboratory of Human Genetics, Faculty of Medicine of Tunis, University of Tunis El Manar, Tunis, Tunisia Department of Congenital and Hereditary Disorders, Charles Nicolle Hospital, Tunis, Tunisia
*
1Corresponding author. Email: [email protected]
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Summary

Consanguineous unions are a deeply rooted social practice among traditional societies. Despite their presumed social advantages, they can result in several health conditions. The aim of this study was: i) to compare consanguinity levels between Tunisian patients affected with autosomal recessive disorders (ARDs) and those with a chromosomal abnormality; and ii) to gain more insight into the mutational status of patients affected with ARDs. Data were collected from 290 files of patients affected by one of five ARDs confirmed by molecular analysis and 248 files of patients with confirmed Down syndrome. Information on the disease, mutation defining the disease, parents' relatedness and geographical origin was gathered. Consanguinity was found among 58% of the ARD patients and among 22% of Down syndrome patients, and a homozygous status was found in 90% of the patients born to related parents and in 70% of patients born to unrelated parents. Also, children from unrelated parents from the same geographical background were found to be more frequently affected by homozygous mutations than those from unrelated parents from different geographical backgrounds. The present study shows how marriage practices affect patterns of genetic variations and how they can lead to homogenization in the genetic pool.

Type
Articles
Information
Journal of Biosocial Science , Volume 47 , Issue 6 , November 2015 , pp. 718 - 726
Copyright
Copyright © Cambridge University Press 2015 

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