abstract background: many disease susceptibility genes are large and consist of many exons in which point mutations are scattered throughout. scanning each exon individually represents a tedious task which can be time consuming and expensive. there has been increasing demand for rapid and accurate methods for full scanning of unknown point mutations in large multi-exon genes. gene assembling is...

Genetic variations found in the coding and non-coding regions of a gene are known to influence the structure as well as the function of proteins. Serine palmitoyltransferase long chain subunit 1 a member of α-oxoamine synthase family is encoded by SPTLC1 gene which is a subunit of enzyme serine palmitoyltransferase (SPT). Mutations in SPTLC1 have been associated with hereditary sensory and auto...

Bartter syndrome (BS) is a group of uncommon genetic disorders of reabsorption of salt in the cortical thick ascending limb (TAL) of the Henle's loop, typically distinguished by metabolic alkalosis, salt loss, hypokalemia, hyperreninemic hyperaldosteronism and normal blood pressure. Bartter syndrome type 3, recognized as a classic BS (CBS), occurs because of mutations in CLCNKB gene. We enroll...

Microfluidics reveals ambiguous antibiotic resistance scenarios. A custom microfluidic device reported by Kersten S. Rabe and co-workers (article number 2007166) elucidates for the first time how bacteria turn into either resistant or persistent “superbugs” due to varying exposure. The chip accelerates evolution, leading discovery of previously unknown mutations within hours, paving way a bette...

A method based on manipulation of the human cytomegalovirus genome in a bacterial artificial chromosome was developed to determine the role played by 6 UL97 mutations of unknown significance. These mutations were found in blood samples from solid-organ transplant recipients in a trial comparing valganciclovir and oral ganciclovir prophylaxis. Recombinant viruses containing UL97 mutations P405L,...

BACKGROUND The ability to identify low-level somatic DNA mutations and minority alleles within an excess wild-type sample is becoming essential for characterizing early and posttreatment tumor status in cancer patients. Over the past 2 decades, much research has focused on improving the selectivity of PCR-based technologies for enhancing the detection of minority (mutant) alleles in clinical sa...

Cystic fibrosis (CF) is caused by mutations in the CFTR gene. More than 1600 mutations have been described, with frequencies that differ worldwide according to the ethnic origin of patients. A small group of mutations are recurrent on several populations. It has been shown that they each tend occur on specific chromosome 7 haplotypes, supporting the notion of a single origin for them. Less than...

Background: Disorders of sex development (DSDs) belong to uncommon pathologies and result from abnormalities during gonadal determination and differentiation. Various gene mutations involved in gonadal determination and differentiation have been associated with gonadal dysgenesis. Despite advances in exploration of genes and mechanisms involved in sex disorders, most children with severe 46,XY ...

Abstract Context: DICER1 mutations are found in multinodular goiter and differentiated thyroid carcinoma children, can be a manifestation of syndrome, but the prevalence their significance adult-onset nodules is unknown. Objective: Determine 1) hotspot nodules; 2) frequency second pathogenic variant with mutations; 3) other cancer driver without mutations. Design: Population-based study 14,993 ...

Diprosopus is an extremely rare form of conjoined twins which found in newborns where there partial or complete duplication face. The etiology and pathophysiology remain unknown no genetic mutations have definitively associated with the condition so far. This article described a case infant born at 33.4 weeks gestation multiple congenital anomalies including diprosopus tetraophthalmos discussed...