............................................................................................................... 3 Abbreviations ........................................................................................................ 3 Introduction ........................................................................................................... 3 Discussion ...............................

introduction: duchene/ becker (dmd/bmd) muscular dystrophy is the most frequent neuromuscular disease in children which is inherited as an x-linked recessive trait. the disease is caused by partial deletion in dystrophin gene. we developed a rapid and robust method for direct identification of female carriers of deletions and duplications in the dystrophin gene, in order to prevent the affected...

Wiskott-Aldrich syndrome (WAS) is a fully penetrant X-linked recessive disorder characterized by thrombocytopenia with small platelets, eczema, and defects of both T-cell and B-cell immunity. Obligate carriers of this disorder show no signs of the gene defect because in the cell lineages primarily affected by the disorder they demonstrate preferential use of the normal, nonmutant X as the activ...

Dyskeratosis congenita (DC) is a rare, inheritable disorder characterized by a triad of abnormal skin pigmentation, nail dystrophy and mucosal leukoplakia. Inheritance is mainly X-linked recessive; however, autosomal dominant and recessive forms have also been reported. Here, we report two cases of DC with distinct clinical presentations together with different genetic screening results, which ...

Families in which a single male is affected with a disease which might be either X linked recessive or autosomal recessive present problems in counselling. Before female relatives can be counselled, the probabilities of each mode of inheritance must be assessed, taking into account the prior probabilities, the pedigree structure, any DNA probe data, and any carrier testing data. The widely used...

The epidemiology of X-linked recessive diseases, a class of genetic disorders, is modeled with a discretetime, structured, mathematical model. The model accounts for both de novo mutations and different reproduction rates of procreating couples depending on their health conditions. Relying on Lyapunov theory, asymptotic stability properties of equilibrium points of the model are demonstrated. T...

The Wiskott-Aldrich syndrome (WAS) is an X-linked recessive disease characterized by immunodeficiency and severe thrombocytopenia in affected males, but no demonstrable clinical abnormalities in carrier females. Through analysis of the methylation patterns of X-linked genes that display restriction fragment length polymorphisms (RFLPs), we studied the pattern of X-chromosome inactivation in var...

This paper discusses the difficult problem that arises when information is sought by female relatives of two or more brothers, each of whom has an identical but undiagnosed or 'new' syndrome, which is likely to be either autosomal recessive or sex linked recessive in inheritance. It is proposed that standard Bayesian methods may be applied in this situation thus incorporating the prior probabil...

In this issue of Arquivos de Neuro-Psiquiatria, Santos-Lobato and colleagues publish a systematic review the literature related to genetics Parkinson’s Disease (PD) in Brazil. It represents first attempt gather all current knowledge on monogenic forms PD large South American country. is now widely accepted that substantial proportion risk for driven by genetics. So far, more than dozen genes wi...