background: robertsonian translocations are structural chromosomal abnormalities caused by fusion of two acrocentric chromosomes. in carriers of such translocations, different modes of segregations would result in the formation of either balanced (alternate segregation mode) or unbalanced (adjacent 1, adjacent 2, and 3:1 segregation modes) gametes. in addition, there is an increased risk for im...

how to cite this article: akbarizar e, ebrahimpour m, akbari s, arzhanghi s, abedini ss, najmabadi h, kahrizi k. a novel deletion mutation in aspm gene in an iranian family with autosomal recessive primary microcephaly. iran j child neurol.  2013 spring;7(2):23-30.   objective autosomal recessive primary microcephaly (mcph) is a neurodevelopmental and genetically heterogeneous disorder with dec...

hearing loss (hl) is the most frequent sensory defect present in 1 of every 500 newborns. in developed countries, at least 50% of cases are caused genetic factors, most often resulting in nonsyndromic hl (70%), which is usually autosomal recessive (80%). to date, fifty genes associated with autosomal recessive non-syndromic hearing loss (arnshl) have been reported.  the aim of this study was to...

Single nucleotide polymorphism–based microarrays used in diagnostic laboratories for the detection of copy number alterations also provide data allowing for surveillance of the genome for regions of homozygosity. The finding of one (or more) long contiguous stretch of homozygosity (LCSH) in a constitutional (nonneoplastic) diagnostic setting can lead to the diagnosis of uniparental disomy invol...

We examine homozygosity and G(st) for a subdivided population governed by the finite island model. Assuming an infinite allele model and strong mutation we show that the steady state distributions of G(st) and homozygosity have asymptotic expansions in the mutation rate. We use this observation to derive asymptotic expansions for various moments of homozygosity and to derive rigorous formulas f...

An earlier paper showed that the homozygosity (of a population or sample) was a good statistic for testing departures from selective neutrality in the direction of heterozygote advantage or disadvantage. It is here shown that homozygosity is also influenced by the presence of deleterious alleles and by other departures from neutrality, but at a lower order of magnitude of effect if the selectio...

We illustrate how homozygosity of haplotypes can be used to measure the level of disequilibrium between two or more markers. An excess of either homozygosity or heterozygosity signals a departure from the gametic phase equilibrium: We describe the specific form of dependence that is associated with high (low) homozygosity and derive various linkage disequilibrium measures. They feature a clear ...

Senior-Loken syndrome (SLS) is a rare autosomal recessive disease characterized by nephronophthisis and early-onset retinal degeneration. We used a large Iranian family with SLS to establish a molecular genetic diagnosis. Following clinical evaluation, we undertook homozygosity mapping in two affected family members and mutational analysis in known SLS genes coinciding with regions of homozygos...