Genetic linkage analysis is a powerful tool to detect the chromosomal location of disease genes. It is based on the observation that genes that reside physically close on a chromosome remain linked during meiosis. For most neurologic diseases for which the underlying biochemical defect was not known, the identification of the chromosomal location of the disease gene was the first step in its ev...

IIIStatistical properties of the method of lod scores III1. The test procedure III1.1. Impact of non-sequentiality III1.2. Maximization of the lod score over the [0, 1/2] interval III1.3 References III-2. Genotype information III-2.1. Ambiguity in phenotype-genotype relationships at the disease locus III-2.2. Ambiguity in the marker genotype III-2.3. Gamete disequilibrium between alleles at the...

Autosomal dominant polycystic kidney disease (ADPKD) is the most common genetic nephropathy, which is characterized by replacement of renal parenchyma with multiple cysts. In Iran, the disease prevalence within the chronic hemodialysis patient population is approximately 8-10%. So far, three genetic loci have been identified to be responsible for ADPKD. Little information is available concernin...

the incidence of pre-lingual hearing loss (hl) is about 1 in 1000 neonates. more than 60% of cases are inherited. non-syndromic hl (nshl) is extremely heterogeneous: more than 130 loci have been identified so far. the most common form of nshl is the autosomal recessive form (arnshl). in this study, a cohort of 36 big arnshl pedigrees with 4 or more patients from 7 provinces of iran was investig...

background: indigenous chickens could serve as precious genetic resources that should be considered in conservation and breeding programs. the major histocompatibility complex (mhc) has a strong association to disease resistance/susceptibility, production and reproduction traits in chicken. therefore, identifying its polymorphism in populations under selective breeding could be used for selecti...

Statistical models for genetic linkage analysis of k locus diseases are k-dimensional subvarieties of a (3 − 1)-dimensional probability simplex. We determine the algebraic invariants of these models with general characteristics for k = 1, in particular we recover, and generalize, the Hardy-Weinberg curve. For k = 2, the algebraic invariants are presented as determinants of 32 × 32-matrices of l...

Objective(s): Genetic analysis of two consanguineous Pakistani families with localized autosomal recessive hypotrichosis was performed with the goal to establish genotype-phenotype correlation. Materials and Methods: Genomic DNA extraction had been done from peripheral blood samples. Extracted DNA was then subjected to PCR (polymerase chain reaction) for amplification. Linkage analysis was perf...