We apply a recently developed time-dependent Poisson random field model to aligned DNA sequences from two related biological species to estimate selection coefficients and divergence time. We use Markov chain Monte Carlo methods to estimate species divergence time and selection coefficients for each locus. The model assumes that the selective effects of non-synonymous mutations are normally dis...

G234 is a silent mutation located in the middle of gene b2, which controls spore pigmentation in Ascobolus immersus. Its effect on the aberrant segregation patterns of while spore mutants located in the same gene was investigated. When heterozygous, G234 decreases the frequency of aberrant segregations of the mutants located on its right, toward the low conversion end. It almost completely supp...

Homothallic strains of Saccharomyces cerevisiae are able to switch from one mating-type to the other as frequently as every cell division. We have identified a cis-dominant mutation of the MATa locus, designated MATa-inc, that can be converted to MATalpha at only about 5% of the normal efficiency. In homothallic MATa-inc/mata* diploids, the MATa-inc locus switched to MATalpha in only one of 30 ...

Alpha-thalassemias are characterized by decreased hemoglobin alpha chain synthesis; alpha-zerothalassemia being the condition where no normal alpha globin is produced, and alpha-plus-thalassemia being the condition where there is reduced globin production. There are two alpha globin genes per haploid genome, and alpha thalassemia abnormalities can result from one to four gene deletions. A singl...

Alpha-thalassemias are characterized by decreased hemoglobin alpha chain synthesis; alpha-zerothalassemia being the condition where no normal alpha globin is produced, and alpha-plus-thalassemia being the condition where there is reduced globin production. There are two alpha globin genes per haploid genome, and alpha thalassemia abnormalities can result from one to four gene deletions. A singl...

OBJECTIVE Thalassemia is one of the most common genetic disorders worldwide. Cap +1 mutation which causes 'silent beta thalassemia' is present around all ethnic groups of Pakistan. This study was designed to detect the frequency of Cap+1 mutation in Pakistani Population. METHODS Molecular genetic for Cap+1 beta thalassemic mutation was done by extracting DNA from whole blood by using Genomic ...

The present study was primarily undertaken to examine the hypothesis that mitochondrial DNA (mtDNA) mutations and telomere length may be associated with aplastic anemia (AA). Our study included a single institution analysis of 40 patients presenting with AA first diagnosed at the Affiliated Hospital of Shandong, University of Traditional Chinese Medicine between 2010 and 2013. Bone marrow and o...

A point mutation which caused a silent phenotype of human serum butyrylcholinesterase (BChE) was identified in the genomic DNA of a 57-year-old Japanese woman who visited our hospital because of pneumonia. The propositus exhibited an unusually low level of BChE activity, whereas her son and daughter had an intermediate level. Immunologically, there was an absence of BChE protein in the proposit...

Objective: Congenital Cataract is a type of ophthalmic genetic disorder that appears at birth or in early childhood. Among 30 genes, CRYBB2 one the most common and water-soluble protein lens’s code for βB2-crystallin. This study aimed to investigate novel silent mutation exon six Pakistani families Autosomal Dominant Cataracts (ADCC).
 Methods: It family-based presents three five-generatio...

Miyata et al. have suggested that the male-to-female mutation rate ratio (alpha) can be estimated by comparing the neutral substitution rates of X-linked (X), Y-linked (Y), and autosomal (A) genes. Rodent silent site X/A comparisons provide very different estimates from X/Y comparisons. We examine three explanations for this discrepancy: (1) statistical biases and artifacts, (2) nonneutral evol...