Mutation pdf

Modern software engineering relies upon software testing as an approximate method to establish correctness. Software testing, as exemplified by the use of test suites, provides the approximation desired, but does not present an obvious method to determine the accuracy of the approximation. Mutation testing is a technique that provides both an estimate of the quality of a test suite, as well as an avenue for its improvement.

Mutation testing is an area of active research, and while it is a useful tool for a software engineer, it is not a panacea for the problems of software testing. This dissertation covers research performed with the goals of both improving the state of the art in mutation testing, as well as applying mutation-testing techniques to solve other problems in software engineering.

This dissertation proposes new techniques in the field of mutation testing along three primary lines of research: "Wild-caught mutants. Guided mutation testing. We propose a set of techniques to foster prioritization of time-consuming mutation-testing operations.

Automatic construction of test suites. We propose a technique that uses mutation-testing tools to aid in the process of automatic test-case generation and the automatic construction of entire test suites. On the contrary, MutGen was introduced to generate test for mutation testing on database applications [15]. Mutation Testing is Anyway, one useful technique for high-quality test-case generation is Evolutionary Testing ET algorithms. Using the probability of five independent lineages from four genome-wide single-nucleotide polymorphism SNP p.

IR-carrier families by chance sharing the same microarray genotypic data from four families, we identi- haplotype was 1. The p. IR allele was fied a shared haplotype of p.

The estimated physical length of the haplotype is extremely low frequency of 1. We also Fig. The genomic coordinates of the shared region confirmed the birthplace of p. IR-carrier individuals, are chr,,—,, IR-asso- and all of the parents were originally from southern pro- ciated haplotype was then compared with the validated vinces of China Fig. These two lines Figure 2. Haplotype analysis of families with the CFTR p. Arrows mark the index CF patients of each family.

The gray symbol represents an individual with an unknown genotype. Open symbols with a dot represent healthy individuals who carry the p.

IR is presented as genomic coordinates [hg19]chr, which is displayed in bold font. IR mutation, whereas index patient V is homozygous for the p. The genotypes of selected informative SNPs located closest to the CFTR gene are shown directly below the corresponding family members in the pedigrees. Figure 3. Functional analysis of p.

Protein processing of wild-type CFTR, p. Fdel-CFTR and p. The same immunoblotting images are presented. Each lane contains 50 lg total protein. The percentage ratio of Band C intensity is normalized to the sum of band B and band C. Representative 10 second recordings show the activities of a single wild-type CFTR and p. The dotted lines indicate closed channels. D and E. The single-channel current amplitude i and open probability Po are presented.

IR carrier families Functional analysis demonstrates that are southern Han Chinese. Therefore, the above evidence p. IR leads to a trafficking defect during as well as sibling data from the first report on p. Our experimental data were well fit as previously described Ostedgaard et al. In this to these criteria well, and we concluded that p. IR further supported our conclusion. IR can be glycosylated protein was found. This finding suggests that estimated.

Assuming all five p. IR lineages from four the p. IR mutation may lead to a trafficking defect, with families to be independent, all of the patients from this reduced protein processing from the endoplasmic reticu- study inherited the mutation from a common ancestor lum to the Golgi apparatus.

However, a single-channel approximately Chen et al. IR patients recently reported by investigators from Beijing mutation Fig. Hence, the dysfunction caused by Liu et al. Another Chinese-specific p. IR appears to be largely caused by the reduced mutation, p. GD, appears to be more commonly expression of fully glycosylated and mature protein.

We summarize our findings along with previously reported CFTR mutations. Interestingly, an obvious difference is observed in the spec- Discussion trum of CFTR mutations between the northern and south- CF has seldom been reported in Chinese individuals.

Although further studies Here, a molecular diagnosis was performed for four local must be performed to elucidate the complete picture of Chinese patients. Our unit is the only center that offers CFTR molecular epidemiology in China, current evidence sweat testing in Hong Kong, a city located in southern suggests that compared with Caucasians, Chinese CF China with a population of approximately 7. IR in three applied to Chinese patients, a customized Chinese-specific of four CF patients from Hong Kong as well as in an CF panel may be required to investigate the incidence of additional Chinese patient homozygous from Malaysia.

CF in Chinese patients. This Chinese-specific CF panel is All four patients with the p. IR mutation exhibited not only relevant for Asian countries but also for other had recurrent pneumonia and bronchiectasis. Pseu- parts of the world that present significant population of domonas aeruginosa was isolated from all patients, and a Chinese immigrants. For example, the US Census more diverse respiratory tract flora was noted in two reported that the Chinese American population included patients.

Three patients had pancreatic insufficiency, and approximately 3. In the limited number of cases 1. IR causes a disruption in did not observe an association of p.

IR that of the wild-type protein. Our calculation of normal led us to hypothesize that p. We defined the Moran and Zegarra-Moran We tested expression following criteria and examined the likelihood of our of the mutant protein via the overexpression of foreign hypothesis: 1 all patients and p.

IR carriers share a plasmids in a cell line and analyzing the total protein haplotype associated with the p. IR-associated haplotype was shared among trapped in the Golgi apparatus and cell membrane. How- affected families with a genetic distance greater than ever, the band intensity ratio did not reflect the actual 1 cM; 3 the mutant allele was rare and specific to the proportion of functional CFTR in the cell membrane population Fachal et al.

In addition, we did not ciated haplotype was unique in the normal population; define an association between the physiological values of and 5 all carriers were delineated to the same p. Moreover, our data clearly indicate that Castellani, C.

Cuppens, M. Macek, J. Cassinian, muturation of the p. Kerern, P. Durie, et al. Consensus on the use and was inhibited. Cai, and D. Direct sensing activity. We functionally characterized p.

Similar to p. AE, p. SR, and www. NK, are also to class II mutations according to Understanding the pathological exac. Cambridge, MA. For Fachal, L. Rodriguez-Pazos, M. Ginarte, J. Toribio, A. Salas, instance, the protein maturation process affected by and A. Multiple local and recent founder effects of TGM1 in Spanish families.

AE was enhanced by lumacaftor treatment Awatade Ho, Y. Wu, K. Wong, C. Huang, C. Niu, S. Shyur, et al.

SR and et al. Novel mutation IR in two Taiwanese p. NK responded positively to treatment with small siblings of cystic fibrosis. Thus, our find- — Shyur, S.

Chu, L. Huang, Y. Kao, W. Lei, et al. Cystic fibrosis: experience in one institution. To conclude, we provide the first report of a founder Microbiol. Wang, X. Tian, K. Xu, W. Xu, X. Li, et al. Because this mutation and other known muta- fibrosis in Chinese patients. Respirology — Roxo Rosa, A.

Dragomir, C. Roomans, M. Amaral, et al. Unusually diagnosis of CF, we suggest a different CFTR gene panel common cystic fibrosis mutation in Portugal encodes a or mutation screening strategy for CF patients of Chinese misprocessed protein.

Moran, O. We are grateful to the families who participated in this Ostedgaard, L. Rogers, Q. Dong, C. Vermeer, T. Rokhlina, et al. We also thank the Centre for Genomic Natl Acad. USA — Sabirzhanova, M. Lopes-Pacheco, R. Grover, support. Guggino, and L. The authors declare that they have no actual or potential Salvatore, D. Buzzetti, E. Baldo, M. Forneris, V.

Lucidi, conflicts of interest, including any financial, personal or D. Manunza, et al. An overview of international other relationships with people or organizations regarding literature from cystic fibrosis registries.

Part 3. Disease the submitted work.