Search PubMed⌕ Search

SEARCH · Search PubMed

Results for “Genetic analysis”

Search indexed PubMed citations on genomics, clinical trials, systematic reviews and public health. Explore titles, authors and supplied subject terms, then open the PubMed record.

Quote a phrase for an exact phrase match. Source license links do not imply unrestricted reuse.

At least 1,117 records · Page 62Linked to original sources
PubMedDate not supplied

Genetic analysis of interferon and other mammalian signaling pathways.

Systematic forward genetics, so powerful for analyzing pathways in haploid organisms, has contributed much less to our understanding of diploid mammalian cells. With Ian Kerr, we have used regulated expression of selectable markers in heavily mutagenized cells to isolate mutant mammalian cell lines defective in eight different proteins required for interferon signaling. These cells have been valuable in studying the roles of the deleted Janus Kinase (JAK), signal transducer and activator of transcription (STAT), and receptor proteins in interferon and other signaling pathways. Mutant cells defective in the induction of class II major histocompatibility complex (MHC) antigens by interferon-gamma or in repressing interferon-regulated genes have also been obtained. More recently, mutant cells unresponsive to double-stranded RNA, tumor necrosis factor alpha (TNF-alpha), or interleukin-1 (IL-1) have been isolated and characterized and a mutant line defective in expressing the tumor suppressor protein p53 has also been obtained. Systematic forward genetics can now be applied more easily to mammalian cells, to help elucidate signaling pathways.

Animals↗
PubMed2003

Genetic analysis of praziquantel resistance in Schistosoma mansoni.

To determine the genetic basis of the resistance of Schistosoma mansoni to praziquantel (PZQ) and to understand whether the resistance is dominant or recessive trait, a schistosome cross was undertaken between a PZQ-susceptible and a PZQ-resistant isolate using infections of the single-sex cercariae which were identified by a direct W1-specific PCR technique. The resistances of F1 and F2 generation to PZQ were evaluated using in vitro egg, miracidial and cercarial tests. The F1 hybrid progeny from crosses between the susceptible and resistant isolates were resistant to PZQ. The resistant phenotype reappeared in the F2 progeny. It can thus be considered that the PZQ resistance behaves like a dominant trait.

Animals↗
PubMed1987

The adrenal X-zone of mice: genetic analysis of its development with recombinant-inbred strains.

The genetic aspects of development of the adrenal X-zone in female mice have been studied in the C57BL/6By and BALB/cBy inbred strains, their hybrids, and the CXB recombinant-inbred (RI) strains. Degeneration of the X-zone, with the accumulation of sudanophilic lipid, was well established in BALB/cBy females by the age of 60 days. Degeneration occurred later in C57BL/6By females, without lipid accumulation. The F1 hybrids showed fatty degeneration at 60 days. The CXB RI strains could be divided into four groups. Two resembled the parental strains and two had recombinant phenotypes. These observations, together with those on backcrosses of RI and F1 mice to the parental strains, indicated the existence of two genes controlling X-zone development. The two loci are provisionally named Exz-1 and Exz-2. In both cases the a alleles, present in BALB, showed dominance over the b alleles, present in C57BL.

Adrenal Glands↗
PubMed1993

Genetic analysis of patterns of growth in infant recumbent length.

A genetic basis to growth and development has been demonstrated in many heritability studies of anthropometrics. Although such measures describe the extent of growth at particular times, they do not fully address the process of growth. We applied a three-parameter curve-fitting function to serial measures of recumbent length from 569 infants (birth to 2 years of age) in 188 families enrolled in the Fels Longitudinal Study. This yielded three growth pattern parameters that represented estimated recumbent length at birth (parameter 1), rate of growth (parameter 2), and intrinsic rate of change in growth (parameter 3). The growth pattern parameter estimates for each individual were examined in a series of genetic analyses using a maximum-likelihood method for pedigree data. Significant heritabilities were found for all three growth pattern parameters: parameter 1, h2 = 0.83 +/- 0.12; parameter 2, h2 = 0.67 +/- 0.18; and parameter 3, h2 = 0.78 +/- 0.17. In addition, genotype by sex interaction was indicated for growth pattern parameters 2 and 3, suggesting that the genes influencing rate of growth and intrinsic rate of change in growth are themselves influenced by the sex of the individual.

Anthropometry↗
PubMed1997

Genetic analysis of the cytotoxin-associated gene and the vacuolating toxin gene in Helicobacter pylori strains isolated from Taiwanese patients.

OBJECTIVE: Two virulence factors encoded by the cytotoxin-associated (cagA) gene and the vacuolating toxin (vacA) gene of Helicobacter pylori are known to be associated with gastroduodenal pathologic conditions. In this report, nucleotide sequence of cagA and vacA and the serum antibody response to the CagA antigen in H. pylori isolates from Taiwanese patients were studied. METHOD: cagA and vacA were characterized in 173 H. pylori strains by polymerase chain reaction and DNA hybridization analyses. The presence of serum IgG antibodies against CagA was assessed by Helico-blot Western blot system. Sequence analysis of polymerase chain reaction-amplified vacA and cagA was performed for two strains. RESULTS: cagA was detected in all the isolates with peptic ulcers and gastric cancer. Of 54 strains with non-ulcer dyspepsia, 51 were found to be cagA+. Serum antibodies to CagA were detected for 99.2% of cagA+ strains compared with 0% of strains lacking cagA. vacA was detected in all isolates. Sequence analysis of vacA and cagA indicated that sequences of two Taiwanese strains were closely related to each other (95.9% and 97% nucleotide identity, respectively) but less homologous to the published strains (90.9% and 91.4% mean nucleotide sequence identity, respectively). CONCLUSIONS: The strong association (98%) of cagA+ strains with Taiwanese patients suggests that the cagA+ phenotype could not be used as a single marker of high-risk patients in Taiwan. Moreover, sequence analysis indicates that Taiwanese strains contain different genetic sequences from those in other geographic regions.

Adolescent↗
PubMed2004

[Genetic analysis of cultivated ginseng population with the assistance of RAPD technology].

OBJECTIVE: To provide reference for breeding of cultivated ginseng by researching the genetic diversities among different strains. METHOD: To make up the systematic diagram of genetic relationship by calculating the proximity coefficient with SPSS 10.0 software and clustered by between-groups linkage method. RESULT: The selected 18 random primers used in PCR amplification to produce 145 bands in 17 samples, among which 53 bands (36.5%) are polymorphic. The results of cluster analysis show that the genetic relationship between different strains of Da-maya is closer than that of Er-maya, which proves that it is feasible to differentiate the cultivated groups in molecular level on outside character. CONCLUSION: RAPD is a favorable molecular marker to assist ginseng breeding.

Cluster Analysis↗
PubMed2000

Application and evaluation of denaturing HPLC for molecular genetic analysis in tuberous sclerosis.

Tuberous sclerosis (TSC) is an autosomal dominant disorder characterised by the development of hamartomas in multiple tissues and organs. TSC exhibits locus heterogeneity with genes at 9q34 (TSC1) and 16p13.3 (TSC2) that have 21 and 41 coding exons, respectively. The mutational spectrum at both loci is wide and previous studies have shown that 60%-70% of cases are sporadic and represent new mutations. We have formatted denaturing high performance liquid chromatography (DHPLC) for rapid screening of all coding exons of TSC1 and TSC2. DHPLC analysis detected likely disease-causing mutations in 103 of 150 unrelated cases (68%), compared with 92/150 (61%) and 87/150 (58%) for single-strand conformation polymorphism analysis (SSCP) and conventional heteroduplex analysis (HA), respectively. Capital, consumable and labour costs were determined for each exon screening procedure. Estimated costs per patient sample depended on throughput, particularly for DHPLC, where a high proportion of costs are fixed, and were pounds sterling 257, pound sterling 216 and pound sterling 242 for DHPLC, SSCP and HA, respectively, assuming a throughput of 252 samples per year, or pound sterling 354, pound sterling 233 and pound sterling 259, assuming a throughput of 126 samples per year. DHPLC had the advantages of increased sensitivity and reduced labour costs when compared with more traditional approaches to exon screening but, unless expensive DHPLC equipment is being efficiently utilised for a very high proportion of the time available, overall costs are slightly higher.

Chromatography, High Pressure Liquid↗
PubMed2005

Genetic analysis of susceptibility to endometrial adenocarcinoma in the BDII rat model.

Most cancers are genetically complex and heterogeneous, a serious obstacle to identifying specific genes underlying the disease. If inbred animal models are used, then both the genetic constitution and environmental influences can be carefully controlled. Females of the BDII inbred rat strain are genetically predisposed to endometrial cancer; more than 90% of virgin BDII females will develop endometrial adenocarcinoma (EAC) during their life span. BDII females were crossed to males from inbred strains with low EAC incidence (SPRD or BN). When F(1) males were backcrossed to BDII females to generate N(1) populations of offspring, about one fourth of the female progeny developed EAC. With transmission disequilibrium test analysis, significant association was detected in three chromosomal regions (on RNO1, RNO11, and RNO17) in the SPRD crosses and in the short arm of RNO20 in the BN crosses. It appears that several susceptibility genes with minor but cooperating effects are responsible for the susceptibility. Furthermore, it seems clear from the interstrain crosses not only that the onset of tumors depends on the presence of susceptibility alleles from the EAC-prone BDII strain, but also that tumor development is affected by the contribution of a genetic component derived from the nonsusceptible strains.

Adenocarcinoma↗
PubMed1994

Genetic analysis of Hispanic individuals with cystic fibrosis.

We have performed molecular genetic analyses of Hispanic individuals with cystic fibrosis (CF) in the southwestern United States. Of 129 CF chromosomes analyzed, only 46% (59/129) carry delta F508. The G542X mutation was found on 5% (7/129) of CF chromosomes. The 3849 + 10kbC-->T mutation, detected primarily in Ashkenazi Jews, was present on 2% (3/129). R1162X and R334W, mutations identified in Spain and Italy, each occurred on 1.6% (2/129) of CF chromosomes. W1282X and R553X were each detected once. G551D and N1303K were not found. Overall, screening for 22 or more mutations resulted in detection of only 58% of CF transmembrane conductance regulator gene mutations among Hispanic individuals. Analysis of KM19/XV2c haplotypes revealed an unusual distribution. Although the majority of delta F508 mutations are on chromosomes of B haplotypes, the other CF mutations are on A and C haplotypes at higher-than-expected frequencies. These genetic analyses demonstrate significant differences between Hispanic individuals with CF and those of the general North American population. Assessment of carrier/affected risk in Hispanic CF individuals cannot, therefore, be based on the mutation frequencies found through studies of the general population but must be adjusted to better reflect the genetic makeup of this ethnic group. Further studies are necessary to identify the causative mutation(s) in this population and to better delineate genotype/phenotype correlations. These will enable counselors to provide more accurate genetic counseling.

Amino Acid Sequence↗