Background: Ataxia with oculomotor apraxia type 1 (AOA1) shows early onset with autosomal recessive inheritance and is caused by a mutation in the aprataxin (APTX) gene encoding for the APTX protein. Methods: In this study, a 7-year-old girl born of a first-cousin consanguineous marriage was described with early-onset progressive ataxia and AOA, with increased cholesterol concentration and decr...

Due to its longevity and enormous information density, DNA is an attractive medium for archival storage. In this work, we study the fundamental limits trade-offs of DNA-based storage systems by introducing a new channel model, which call noisy shuffling-sampling channel. Motivated current technological constraints on synthesis sequencing, model captures three key distinctive aspects systems: (1...

Gene polymorphism refers to a variation in DNA sequence that occurs population with frequency of 1% or higher. Polymorphism may be single nucleotide (SNP) some repetitive sequences (length polymorphism). Several methods can used analyze polymorphism, included Polymerase Chain Reaction (PCR), sequencing from the conventional method more sophisticated such as Next Generation Sequencing (NGS), flu...

Matrix-assisted laser desorption ionization time-of-flight mass spectrometry (MS) has been explored widely for DNA sequencing. The major requirement for this method is that the DNA sequencing fragments must be free from alkaline and alkaline earth salts as well as other contaminants for accurately measuring the masses of the DNA fragments. We report here the development of a novel MS DNA sequen...

Efficient and cost-effective DNA sequencing technologies have been, and may continue to be, critical to the progress of molecular biology. This overview of DNA sequencing strategies provides a high-level review of six distinct approaches to DNA sequencing: (a) dideoxy sequencing; (b) cyclic array sequencing; (c) sequencing-by-hybridization; (d) microelectrophoresis; (e) mass spectrometry; and (...

A DNA sequencing method has been developed whereby DNA that has been cloned in a single-stranded bacteriophage vector can be sequenced from both ends. The method involves f i r s t making a minus-strand sense template from a single-stranded insert in the vector MJ3mp2 using a flanking primer~ and then sequencing the synthesized template using the d i d e o x y n u c l e o t i d e termination me...

The problem of reading DNA sequence films has been reformulated using an easily implemented, multiplex version of enzymatic DNA sequencing. By utilizing a uniquely tagged primer for each base-specific sequencing reaction, the four reactions can be pooled and electrophoresed in a single lane. This approach has been previously proposed for use with fluorescently labelled probes (1), and is analog...