Pyrosequencing is a highly effective method for quantitatively genotyping short genetic sequences, but it currently is hampered by a labor-intensive sample preparation process designed to isolate single-stranded DNA from double-stranded products generated by conventional PCR. Here linear-after-the-exponential (LATE)-PCR is introduced as an efficient and potentially automatable method of directl...

The distribution of genetic polymorphisms of chemokine receptors CCR532, CCR2-64I and chemokine (SDF1-3’A) mutations were studied in 110 Human Immunodeficiency Virus type 1 (HIV-1) seropositive individuals (seropositive group) and 139 seronegative individuals (seronegative group) from the population of the northern Brazilian city of Belém which is the capital of the state of Pará in the Brazili...

BACKGROUND Germ-line mutations of the TP53 gene are known to cause Li-Fraumeni syndrome, an autosomal, dominantly inherited, high-penetrance cancer-predisposition syndrome characterized by the occurrence of a variety of cancers, mainly soft tissue sarcomas, adrenocortical carcinoma, leukemia, breast cancer, and brain tumors. METHODS Mutation analysis was based on Denaturing high performance l...

problem owing to the wide prevalence of the disease in these regions.[1] β thalassemia is inherited as an autosomal recessive disorder, which results in reduction or absence in β globin chain.[2] Point mutation in the β-globin gene is the cause of β thalassemia inheritance in majority of cases, while short deletion in the same gene may occasionally be the cause. More than 200 mutations that res...

Mycoplasma pneumoniae is usually susceptible to macrolides, but macrolide-resistant strains have been found frequently in recent years. Mutations in domain V of the 23S rRNA gene of M. pneumoniae interfere with the binding of macrolides to rRNA and mediate macrolide resistance. In this study, we developed a rapid and inexpensive method that combines nested PCR (nPCR), single-strand conformation...

PURPOSE To identify the underlying genetic defect in a Chinese family affected with autosomal dominant congenital nuclear cataract. METHODS A four-generation Chinese family with inherited nuclear cataract phenotype was recruited. Detailed family history and clinical data were recorded. All reported nuclear cataract-related candidate genes were screened for causative mutations by direct DNA se...

The purpose of this paper is to prove that one of the simplest one dimensional cellular automata is computationally universal, implying that many questions concerning its behavior, such as whether a particular sequence of bits will occur, or whether the behavior will become periodic, are formally undecidable. The cellular automaton we will prove this for is known as “Rule 110” according to Wolf...

We give small universal Turing machines with state-symbol pairs of (6, 2), (3, 3) and (2, 4). These machines are weakly universal, which means that they have an infinitely repeated word to the left of their input and another to the right. They simulate Rule 110 and are currently the smallest known weakly universal Turing machines. Despite their small size these machines are efficient polynomial...