To date, preconceptual and prenatal patients have been offered gene-by-gene, disorder-by-disorder carrier screening. Newer techniques allow screening of many disorders at one time. The goal of this review is to provide an overview of the current practice and future direction of carrier screening within the preconceptual/prenatal setting.

The aim of this study was to examine the feasibility of using an economic and practical method in order to perform non-invasive prenatal testing of thalassemia as a sing gene disorder.Sixteen (16) pregnant mothers in the 11th week of pregnancy who were referred for prenatal diagnosis of thalassemia were selected. The parents had one of IVSII-1, IVSI-5 or FR codon 8/9 mutations. Enrichment of cf...

Duchenne muscular dystrophy (DMD) is caused by mutation in the dystrophin gene. In DMD, only male carrying the mutated DMD gene is affected while female becomes carrier of the disease because of the X-linked recessive characteristics of the disorder. About one-third of DMD cases show de novo mutations, while the rest are inherited through carrier others or arise from germlinemosaicism. The reco...

The vaginal mucosa is the most common site of infection for viruses that are transmitted through heterosexual intercourse, including human immunodeficiency virus and papillomavirus. Thus, in order to prevent or respond to these infections, strong vaginal immunity is required as the first line of defense. We previously investigated the use of a needle-free injector as a mucosal vaccination tool ...

Marker rescue is an important molecular technique that enables sequential gene deletions. The Cre-loxP recombination system has been used for marker gene rescue in various organisms, including aspergilli. However, this system requires many time-consuming steps, including construction of a Cre expression plasmid, introduction of the plasmid, and Cre expression in the transformant. To circumvent ...

A cDNA complementary to the mRNA of the ADP/ATP carrier from Neurospora crassa was identified among ordered cDNA clones by hybridizing total polyadenylated RNA to pools of 96 cDNA recombinant plasmids and subsequent cell-free translation of hybridization-selected mRNA. Further carrier cDNAs were found by colony filter hybridization at a frequency of 0.2-0.3%. The gene of the carrier was cloned ...

NadA is a novel vaccine candidate recently identified in Neisseria meningitidis and involved in adhesion to host tissues. The nadA gene has been found in approximately 50% of the strains isolated from patients and in three of the four hypervirulent lineages of non-serogroup A strains. Here we investigated the presence of the nadA gene in 154 meningococcal strains isolated from healthy people (c...

streptococcus agalactiae is acommensalorganism, but it may cause infection in susceptible hosts. the aim of this study was to evaluate pcr assay compared with conventional culture method for direct detection of streptococcus agalactiae . total of 203 paired low vaginal swabs were collected from women at 35-37 weeks of pregnancy from june 2013 through february 2014 for detection of streptococcus...