Estimation of Recent and Ancient Inbreeding in a Small Endogamous Tunisian Community Through Genomic Runs of Homozygosity.

Autor: Ben Halim N; Laboratory of Biomedical Genomics and Oncogenetics, Pasteur Institute of Tunis, Tunis, Le Belvédère, Tunisia., Nagara M; Laboratory of Biomedical Genomics and Oncogenetics, Pasteur Institute of Tunis, Tunis, Le Belvédère, Tunisia., Regnault B; Eukaryote Genotyping Platform, Institut Pasteur, Paris, France., Hsouna S; Laboratory of Biomedical Genomics and Oncogenetics, Pasteur Institute of Tunis, Tunis, Le Belvédère, Tunisia., Lasram K; Laboratory of Biomedical Genomics and Oncogenetics, Pasteur Institute of Tunis, Tunis, Le Belvédère, Tunisia., Kefi R; Laboratory of Biomedical Genomics and Oncogenetics, Pasteur Institute of Tunis, Tunis, Le Belvédère, Tunisia., Azaiez H; Laboratory of Biomedical Genomics and Oncogenetics, Pasteur Institute of Tunis, Tunis, Le Belvédère, Tunisia., Khemira L; Laboratory of Biomedical Genomics and Oncogenetics, Pasteur Institute of Tunis, Tunis, Le Belvédère, Tunisia., Saidane R; Laboratory of Biomedical Genomics and Oncogenetics, Pasteur Institute of Tunis, Tunis, Le Belvédère, Tunisia., Ammar SB; Clinical Biochemistry Laboratory, Pasteur Institute of Tunis, Tunis, Le Belvédère, Tunisia., Besbes G; ENT Department, la Rabta Hospital, Tunis, Tunisia., Weil D; Inserm UMRS587, Unité de Génétique et Physiologie de l'Audition, Institut Pasteur, Paris Cedex 15, France., Petit C; Inserm UMRS587, Unité de Génétique et Physiologie de l'Audition, Institut Pasteur, Paris Cedex 15, France., Abdelhak S; Laboratory of Biomedical Genomics and Oncogenetics, Pasteur Institute of Tunis, Tunis, Le Belvédère, Tunisia., Romdhane L; Laboratory of Biomedical Genomics and Oncogenetics, Pasteur Institute of Tunis, Tunis, Le Belvédère, Tunisia.
Jazyk: angličtina
Zdroj: Annals of human genetics [Ann Hum Genet] 2015 Nov; Vol. 79 (6), pp. 402-17. Date of Electronic Publication: 2015 Sep 29.
DOI: 10.1111/ahg.12131
Abstrakt: Runs of homozygosity (ROHs) are extended genomic regions of homozygous genotypes that record populations' mating patterns in the past. We performed microarray genotyping on 15 individuals from a small isolated Tunisian community. We estimated the individual and population genome-wide level of homozygosity from data on ROH above 0.5 Mb in length. We found a high average number of ROH per individual (48.2). The smallest ROH category (0.5-1.49 Mb) represents 0.93% of the whole genome, while medium-size (1.5-4.99 Mb) and long-size ROH (≥5 Mb) cover 1.18% and 0.95%, respectively. We found that genealogical individual inbreeding coefficients (Fped ) based on three- to four-generation pedigrees are not reliable indicators of the current proportion of genome-wide homozygosity inferred from ROH (FROH ) either for 0.5 or 1.5 Mb ROH length thresholds, while identity-by-descent sharing is a function of shared coancestry. This study emphasizes the effect of reproductive isolation and a prolonged practice of consanguinity that limits the genetic heterogeneity. It also provides evidence of both recent and ancient parental relatedness contribution to the current level of genome-wide homozygosity in the studied population. These findings may be useful for evaluation of long-term effects of inbreeding on human health and for future applications of ROHs in identifying recessive susceptibility genes.
(© 2015 John Wiley & Sons Ltd/University College London.)
Databáze: MEDLINE
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