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...

neurodegenerative disorders, clinically characterized by a cerebellar syndrome with imbalance, unsteady gait and limb incoordination, dysarthria, and disturbed eye movements. Often there are additional neurological or systemic signs, which are highly variable depending on the genetic subtype and on the individual phenotype. The genetic background of heredoataxias has been largely identified dur...

biotin is a water-soluble vitamin and co-factor for activation of carboxylases apoenzymes. biotinidase enzyme is essential for release of biotin from apoenzymes. absence of biotinidase is an autosomal recessive trait with a prevalence of 1 in 60000. clinical manifestations of biotinidase deficiency include dermatitis, alopecia, seizures, hypotonia, developmental delay, hearing loss, visual impa...

The ability to taste phenylthiocarbamide (PTC), is autosomal trait inherited in a simple Mendelian recessive pattern. frequency of Taster and non-Taster allele varies different populations. purpose the research investigate prevalence, gene genotype taster (T) non (ts Osing population Kemiren-Banyuwangi. PTC serial dilution method was used assess phenotypes. Hardy–Weinberg determine frequencies....

Incomplete prepyloric mucosal diaphragm (IPMD) is an uncommon congenital anomaly that leads to gastric outlet obstruction in infancy and childhood. This report describes the occurrence of IPMD in six children in a closely knit tribal family from a geographically isolated desert town with a small population in the Sahara. Their records showed similarities of clinical, radiological, operative, an...

Erythroid cell iron and transferrin uptake and release was studied in the anemia of the Belgrade laboratory rat (gene symbol, b), an autosomal recessive trait characterized by hypochromia and hyperferrinemia. When reticulocyte-rich red cells were incubated in vitro with doubly (59Fe, 125I) labeled transferrin, b/b cells demonstrated a significantly higher uptake of transferrin (164% of control ...

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...