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At least 73 records · Page 4Linked to original sources
PubMed1994

Technical feasibility of genetic testing for Alzheimer's disease.

This article examines the feasibility of using molecular genetic information for diagnostic and predictive testing in Alzheimer's disease (AD). The scope is limited largely to early onset familial cases, but a brief update on genetic research in late onset disease is included. The usefulness and accuracy of such testing is determined by the results and interpretation of current research data which are presented herein. The ethical and legal issues implicated in such procedures are not covered but are examined elsewhere in this issue. During the course of the genetic analysis of AD, it has become clear that it is an etiologically heterogeneous disorder. In understanding the genetic predisposition to AD there should be continual attention to this message. Age of onset and familiality have emerged as the most useful clinical features demarcating subgroups with common origins. At least two genes predispose (independently) to early onset familial AD: the beta-amyloid precursor protein gene (beta APP) and an unidentified gene on chromosome 14. Germ line mutations in these genes act dominantly. The accurate use of genetic data in AD, for diagnostic, screening and predictive purposes relies on the most up-to-date knowledge of the transmission of the disorder in relation to mutations in these genes. The interpretation of genetic data is examined for each of the known early onset genes. In addition, we review the data pertaining to late onset disease and risk conferred by the APOE locus to both familial and nonfamilial cases. The use of these data in genetic risk analysis must be reserved until a full explanation of the association and its meaning is forthcoming. Isolated cases of AD occur at all ages of onset, but no AD mutations in the beta APP gene have yet been identified in isolated cases.

Adult↗
PubMed1980

A micromethod of chicken MLR: technical aspects and genetic control.

A micromethod of chicken mixed lymphocyte culture is described. In order to test the genetic control of the reaction, lymphocytes from the inbred G-B1 and G-B2 strains were cultured together with lymphocytes of the MHC identical chickens of a segregating population of (G-B1 x G-B2) F2 hybrids. Most of these combinations showed no response, which is in agreement with the major importance of the lymphocyte activating determinants (Lads) being controlled by the B complex (chicken MHC). A few strong reactions of MLC between B identical individuals indicated, however, that chickens in addition may have Lads controlled by genes not closely linked to the B complex.

Animals↗
PubMed2001

[Technical improvements in genetic manipulation of Pichia pastoris and their application in hirudin expression].

Pichia pastoris has become an increasingly popular host for heterologous protein production. However, there is neither a high-efficient transformation method nor a fast colony-PCR assay for the yeast yet. In this paper, we report a transformation procedure by electroporation, which reaches the value of up to 2800 transformants/microgram DNA. By using a cold and heat treatment and a modified PCR buffer, we established a simple and reliable colony-PCR protocol to detect recombinant P. pastoris clones, which is comparable to the conventional assay for E. coli colonies. With these two novel techniques, we have successfully achieved the expression of hirudin, an antithrombin agent, in Pichia pastoris. The secreted hirudin maintains a biological activity of 82 antithrombian units per milliliter supernatant from the media.

Electroporation↗
PubMed1990

[Use of the polymerase chain reaction technic in the genetic analysis of cystic fibrosis].

The development of polymerase chain reaction (PCR) which allows the specific amplification of DNA sequences has improved considerably the genetic analysis of hereditary diseases. We present here the application of this new technique to the genetic analysis of cystic fibrosis (CF), the most frequent severe genetic disease in caucasians. We have amplified four sequences containing polymorphisms linked to the CF gene (CS.7, KM.19, MP6d-9 and J3.11), and analysed the amplified products with restriction enzymes. Complete concordance was found with classical Southern methods, allowing the application of PCR to routine CF family studies.

Amino Acid Sequence↗
PubMed2005

Science and society: protecting crop genetic diversity for food security: political, ethical and technical challenges.

Crop genetic diversity - which is crucial for feeding humanity, for the environment and for sustainable development - is being lost at an alarming rate. Given the enormous interdependence of countries and generations on this genetic diversity, this loss raises critical socio-economic, ethical and political questions. The recent ratification of a binding international treaty, and the development of powerful new technologies to conserve and use resources more effectively, have raised expectations that must now be fulfilled.

Agriculture↗
PubMed2000

Null alleles of the COL5A1 gene of type V collagen are a cause of the classical forms of Ehlers-Danlos syndrome (types I and II).

Ehlers-Danlos syndrome (EDS) types I and II, which comprise the classical variety, are well characterized from the clinical perspective, but it has been difficult to identify the molecular basis of the disorder in the majority of affected individuals. Several explanations for this failure to detect mutations have been proposed, including genetic heterogeneity, failure of allele expression, and technical difficulties. Genetic heterogeneity has been confirmed as an explanation for such failure, since causative mutations have been identified in the COL5A1, COL5A2, and tenascin X genes and since they have been inferred in the COL1A2 gene. Nonetheless, in the majority of families with autosomal dominant inheritance of EDS, there appears to be linkage to loci that contain the COL5A1 or COL5A2 genes. To determine whether allele-product instability could explain failure to identify some mutations, we analyzed polymorphic variants in the COL5A1 gene in 16 individuals, and we examined mRNA for the expression of both alleles and for alterations in splicing. We found a splice-site mutation in a single individual, and we determined that, in six individuals, the mRNA from one COL5A1 allele either was not expressed or was very unstable. We identified small insertions or deletions in five of these cell strains, but we could not identify the mutation in the sixth individual. Thus, although as many as one-half of the mutations that give rise to EDS types I and II are likely to lie in the COL5A1 gene, a significant portion of them result in very low levels of mRNA from the mutant allele, as a consequence of nonsense-mediated mRNA decay.

Adolescent↗
PubMed1995

Technical note: changes in genetic predictions between subsequent evaluations.

A procedure was developed to compute the proportion (P) of future genetic predictions that would be within 1 SE of previous predictions. The procedure is based on the Central Limit Theorem. Whatever the distribution function, provided only that it has a finite variance, the sample mean will have approximately the normal distribution for large samples. The proportion of new individual genetic predictions being within 1 SE of their previous evaluation is expressed as a function of the change in accuracy (ACC) between the previous and subsequent evaluations. If little additional information is made available since the previous evaluation, the increase in ACC will be almost negligible. As anticipated the vast majority of genetic predictions will be within 1 SE of their previous evaluation. The proportion determined from the results of the analysis can be compared to P. An additional appealing feature of the procedure presented is the ease of implementation with most computer softwares. Finally, application to both simulated and field data is presented.

Analysis of Variance↗
PubMed2025

Prenatal screening for trisomy 21 (Down syndrome) using first- and second-trimester biochemistry and nuchal translucency: A technical standard of the American College of Medical Genetics and Genomics (ACMG).

This technical standard was developed as a guide for laboratories performing prenatal screening for Down syndrome. It addresses 3 topics: second trimester (triple or quad), first trimester, including incorporation of nuchal translucency, and current directions in cell-free DNA screening. Analytic methods, clinical considerations, screening performance, guidelines for reporting second trimester, first trimester, integrated, contingent, and reflex screening tests for Down syndrome, are discussed. Individual laboratories are responsible for meeting the quality assurance standards described by the Clinical Laboratory Improvement Amendments, the College of American Pathologists, and other regulatory agencies, with respect to appropriate sample documentation, assay validation, general proficiency, and quality control measures.

Humans↗
PubMed2026

Genetic Testing in Cystic Kidney Disease.

Genomic investigation is playing an increasing role in the management of cystic kidney diseases, reflecting a broader shift toward precision medicine in nephrology. Recent updates to the Kidney Disease Improving Global Outcomes Clinical Practice Guideline emphasize diagnostic genomics as a core component of autosomal dominant polycystic kidney disease care in particular, recognizing its utility across a range of clinical scenarios. Traditionally, diagnosis of autosomal dominant polycystic kidney disease has been clinical, using age-dependent imaging criteria for at-risk individuals via ultrasound and magnetic resonance imaging. Although these imaging modalities have good sensitivity, there are pitfalls in clinical diagnosis, particularly in patients with atypical clinical features, those without family history, or those at a young age. A confirmed genetic diagnosis can guide screening of at-risk family members, inform reproductive decisions, support safe selection of living related kidney donors, and provide the opportunity to use genotype-specific prognostication tools. In addition, as genotype-specific therapies enter the landscape, accurate genotyping will become essential for identifying which patients will benefit from treatment. This narrative review aims to provide a practical approach for the general nephrologist of when to offer genetic testing to patients with cystic kidney disease and outline the technical and genetic counseling considerations in the provision of patient-centered genetic investigation.

Humans↗