Evolution of consanguinity studies in Italy
| Author: | G. Romeo |
|---|---|
| Submitted: | Friday 6th of July 2012 10:52:39 AM |
| Submitted by: | egf |
| Language: | English |
| Content type: | Learning resource |
| Educational levels: | qc2, qc3 |
Contents
Abstract
Classical studies of consanguinity have taken advantage of the relationship between the gene frequency for a rare autosomal recessive disorder (q) and the proportion of offspring of consanguineous couples who are affected with the same disorder. We developed a new approach for estimating q using mutation analysis of affected offspring of consanguineous couples based on the possibility that the child born of consanguineous parents carries the same mutation in double copy (true homozygosity) or alternatively carries two different mutations in the same gene (compound heterozygosity) inherited through two different ancestors. The proportion of compound heterozygotes among children affected with a given autosomal recessive disorder, born of consanguineous parents, can be taken therefore as an indirect indicator of the frequency of the same disorder in the general population. Data from the offspring of consanguineous marriages affected with different autosomal recessive disorders collected by different molecular diagnostic laboratories in Mediterranean countries and in particular in Arab countries, where the frequencies of consanguineous marriages is high, show the validity of this approach (A. Gialluisi et al Ann Hum Genet 2012;76: 159-67). Finally our experimental data show that the causative mutation for a rare autosomal recessive disorder can be identified by whole exome sequencing of only two affected children of first cousins parents (Pippucci T. et al.: Hum Hered 2011; 72: 45-53)
Romeo_Consanguinity_May_13_5219.pdf
Citation
G. Romeo. Evolution of consanguinity studies in Italy. EUROGENE portal. July 2012. online: http://eurogene.open.ac.uk/content/evolution-consanguinity-studies-italy
Keywords
admixture, affected, allele, allele frequency, Analysis of the entire coding region: Sequence analysis, autosomal recessive, autozygosity, base, beta, complex inheritance, compound heterozygote, consanguineous, consanguineous marriage, consanguinity, correlation, deletion, deoxyribonucleic acid, drift, exon, founder, frameshift, frequency, gene, genetic counselling, genetic counsellor, genetic disease, geneticist, genetics, genome, genome wide association, genomics, genotype, hereditary, heredity, heterozygote, high throughput, homozygous, hybrid, identity by descent, inbreeding, inherited, insertion, intron, kilobase, linkage, locus, minor allele frequency, molecular genetics, mutation, nonsense mutation, nuclear family, pedigree, phenotype, point mutation, population, population genetics, population isolate, prevalence, probability, proband, recessive allele, screening, sib, single nucleotide polymorphism, syndrome, untranslated region, variable expressivity, variant, variationTerms of use
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