Transl Androl Urol, Vol 3, Suppl 1 September 2014 www.amepc.org/tau © Translational Andrology and Urology. All rights reserved. genetic analysis. Result(s): A missense mutation of KAL1, c.1828G>A, led to pVal610Ile substitution in two brothers with KS; their mother is heterozygous for this missense mutation encoded by single-nucleotide polymorphism rs2229013. Conclusions: Mutation analysis reve...

PURPOSE Although survival with a p53 missense mutation is highly variable, p53-null mutation is an independent adverse prognostic factor for advanced stage ovarian cancer. By evaluating ovarian cancer survival based upon a structure function analysis of the p53 protein, we tested the hypothesis that not all missense mutations are equivalent. EXPERIMENTAL DESIGN The p53 gene was sequenced from...

A suppressor mutation specific for a missense codon in the L-ribulokinase structural gene of the L-arabinose operon of Escherichia coli B/r enhanced L-arabinose utilization by the strain containing the missense codon. Electrophoretic comparisons of the wild-type, missense, and suppressed missense L-ribulokinases indicated that the suppressor changed the structure of the missense kinase, thereby...

Background: Mucopolysaccharidosis type-VI (MPS-VI), which is inherited as an autosomal recessive trait, results from the deficiency of N-acetylgalactosamine 4-sulfatase (arylsulfatase B) activity and the lysosomal accumulation of dermatan sulfate. In this study, ARSB mutation analysis was performed on three unrelated patients who were originally from the West Azerbaijan province of Iran. Method...

wilson disease is a metabolic disorder with an autosomal recessive genetic pattern and occurs in 1-4 of every 100000 individuals. inactivation of the atp7b gene leads to accumulation of the toxic copper to liver and brain causing hepatic and neurological complication. therefore, most patients suffer from chronic hepatic inflammation and central nervous system disorder. nowadays, up to 500 mutat...

Sickle cell disease is an autosomal recessive hematological disorder resulting from a missense point mutation in the beta chain of haemoglobin molecule. This article reports case homozygous sickle adult patient with long-standing history non-healing ulcer

OBJECTIVE To present the clinical, genetic, biochemical, and molecular findings in two Chinese siblings with X-linked recessive Kallmann syndrome (KS). DESIGN Case report. SETTING University medical center. PATIENT(S) Two Chinese siblings. INTERVENTION(S) Clinical evaluation, hormone assays, and gene mutation research. MAIN OUTCOME MEASURE(S) Endocrinologic evaluation and genetic anal...

Cystic fibrosis is an autosomal recessive disease caused by a wide spectrum of mutations in the gene encoding for the cystic fibrosis transmembrane conductance regulator protein. These mutations that correlate with different phenotypes, vary in their frequency and distribution in different populations. In this study missense mutation R117H that associated with the different clinical symptoms wa...

Wilson disease is a metabolic disorder with an autosomal recessive genetic pattern and occurs in 1-4 of every 100000 individuals. Inactivation of the ATP7B gene leads to accumulation of the toxic copper to liver and brain causing hepatic and neurological complication. Therefore, most patients suffer from chronic hepatic inflammation and central nervous system disorder. Nowadays, up to ...

background: apolipoprotein a2 (apoa2) is the second major apolipoprotein of the high-density lipoprotein cholesterol (hdl-c). the study aim was to identify apoa2 gene variation in individuals within two extreme tails of hdl-c levels and its relationship with hdl-c level. methods: this cross-sectional survey was conducted on participants from tehran glucose and lipid study (tlgs) at research ins...