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*  Genetic Atypical Hemolytic-Uremic Syndrome - GeneReviews® - NCBI Bookshelf
... of genetic aHUS progresses to end-stage renal disease (ESRD). ... Genetic aHUS accounts for an estimated 60% of all aHUS. ... Individuals with genetic aHUS frequently experience relapse even after complete recovery following the presenting episode; 60% ... Carrier (Heterozygote) Detection. Carrier testing for at-risk relatives requires prior identification of the pathogenic ... in one or more of the genes known to be associated with genetic aHUS. The genes associated with genetic aHUS include C3, CD46 ( ...
  https://www.ncbi.nlm.nih.gov/books/NBK1367/
*  von Willebrand Disease - GeneReviews® - NCBI Bookshelf
... a congenital bleeding disorder caused by deficient or defective plasma von Willebrand factor (VWF), may only become apparent on ... Carrier (Heterozygote) Detection. Carrier testing for at-risk relatives requires prior identification of the VWF pathogenic ... The following section deals with genetic risk assessment and the use of family history and genetic testing to clarify genetic ... Note: (1) The genes included in the panel and the diagnostic sensitivity of the testing used for each gene vary by laboratory ...
  https://www.ncbi.nlm.nih.gov/books/NBK7014/
*  Free Sialic Acid Storage Disorders - GeneReviews® - NCBI Bookshelf
... intermediate severe Salla disease, and infantile free sialic acid storage disease (ISSD) ‒ are neurodegenerative disorders ... The mildest phenotype is Salla disease, which is characterized by normal appearance and neurologic findings at birth followed ... The allelic disorders of free sialic acid metabolism - Salla disease, ... Carrier (Heterozygote) Detection. Carrier testing for at-risk family members is possible if the pathogenic variants have been ...
  https://www.ncbi.nlm.nih.gov/books/NBK1470/
*  Mitochondrial Neurogastrointestinal Encephalopathy Disease - GeneReviews® - NCBI Bookshelf
... disease is characterized by progressive gastrointestinal dysmotility (manifesting as early satiety, nausea, dysphagia, ... Carrier (Heterozygote) Detection. Molecular genetic testing. Carrier detection for at-risk family members requires prior ... Mutation of POLG or POLG2 (see POLG-Related Disorders), the genes encoding the two subunits of DNA polymerase gamma, which is ... PLP1-related disorders, Krabbe disease, Alexander disease, Canavan disease, congenital muscular dystrophy with merosin ...
  https://www.ncbi.nlm.nih.gov/books/NBK1179/
*  PINK1 Type of Young-Onset Parkinson Disease - GeneReviews® - NCBI Bookshelf
The disease is usually slowly progressive. Individuals have a marked and sustained response to oral administration of levodopa ... and rigidity that are often indistinguishable from other causes of Parkinson disease. Lower-limb dystonia may be a presenting ... PINK1 type of young-onset Parkinson disease is characterized by early onset (mean age 33 years) of tremor, bradykinesia, ... Carrier (Heterozygote) Detection. Carrier testing for at-risk relatives requires prior identification of the PINK1 pathogenic ...
  https://www.ncbi.nlm.nih.gov/books/NBK26472/
*  Eugenics - Wikipedia
Reducing the instance of sickle-cell disease genes in Africa where malaria is a common and deadly disease could indeed have ... Prenatal diagnosis of genetic disorders and pregnancy terminations of defective fetuses. Embryo selection. Genetic engineering ... The heterozygote test is used for the early detection of recessive hereditary diseases, allowing for couples to determine if ... although not influencing the prevalence of heterozygote carriers of those diseases. The elevated prevalence of certain ...
  https://en.wikipedia.org/wiki/Eugenics
*  Werner Syndrome - GeneReviews® - NCBI Bookshelf
Carrier (Heterozygote) Detection. Carrier testing for at-risk relatives requires prior identification of the WRN pathogenic ... National Organization for Rare Disorders (NORD). Werner Syndrome. *. NCBI Genes and Disease ... The following section deals with genetic risk assessment and the use of family history and genetic testing to clarify genetic ... Genetic Counseling. Genetic counseling is the process of providing individuals and families with information on the nature, ...
  https://www.ncbi.nlm.nih.gov/books/NBK1514/
*  Disorders of sterol synthesis
... neurodegenerative disorders, patients with MS and other brain and central nervous system disorders and diseases. ... Abnormalities in Genes Linked to IRSP in Alzheimer Disease * Alzheimer Disease Biomarkers Expose Individuals to Long-Term Care ... What caused this disease to develop at this time?. These are genetic diseases inherited in an autosomal recessive manner, with ... Carrier parents have a 25% chance with each pregnancy of conceiving a child with SLOS, a 50% chance with each pregnancy of ...
  https://www.neurologyadvisor.com/pediatrics/disorders-of-sterol-synthesis/article/623866/
*  Patent EP0226288A2 - Means and method of testing for cystic fibrosis based on genetic linkage - Google Patents
DNA of ancestors in the family line contains identified cystic fibrosis causing allele genes, said method comprising, ... restriction digesting a DNA sample to be tested, which DNA sample is from an individual having a family genetic background in ... presence or absence of one or more cystic fibrosis alleles in a DNA sample taken from an individual having a family genetic ... LETHAL GENETIC DISEASE. An inherited disorder which can lead to the death of the affected individual. ...
  http://www.google.com.au/patents/EP0226288A2?cl=en
*  Autosomal Recessive Congenital Ichthyosis - GeneReviews® - NCBI Bookshelf
Carrier (Heterozygote) Detection. Carrier testing is possible for at-risk family members once both ARCI-related pathogenic ... For a detailed summary of gene and protein information for the genes associated with this disorder, see Table A, Gene. ... The following section deals with genetic risk assessment and the use of family history and genetic testing to clarify genetic ... Chanarin-Dorfman syndrome (OMIM 275630) (neutral lipid storage disease) is an autosomal recessive neuroichthyotic disorder in ...
  https://www.ncbi.nlm.nih.gov/books/NBK1420/
*  Louanne Hudgins | Stanford Medicine Profiles
Carrier screening for selected genetic disorders is now offered routinely to pregnant women or those contemplating pregnancy. ... We queried disease-specific mutation databases and pharmacogenomics databases to identify genes and mutations with known ... The severity of this disorder indicates the importance of early prenatal detection. In medical literature, there are a few ... and currently only a single missense mutation has been identified in a compound heterozygote. Here, we describe a further 8 ...
  https://med.stanford.edu/profiles/louanne-hudgins
*  Carrier effect | definition of carrier effect by Medical dictionary
... carrier effect explanation free. What is carrier effect? Meaning of carrier effect medical term. What does carrier effect mean? ... Looking for online definition of carrier effect in the Medical Dictionary? ... carrier detection. in genetic terms the detection of a heterozygote which carries the gene which is under investigation. ... carrier state. the state of being a carrier of an infectious disease or of a genetic defect. ...
  http://medical-dictionary.thefreedictionary.com/carrier+effect
*  Cellular Radiosensitivity, Radioresistant DNA Synthesis, and Defect in Radioinduction of p53 in Fibroblasts From...
In view of the suggestion10 that the carriers of the AT gene have an increased risk of ischemic heart disease and our findings ... Genetic alterations leading to abnormal expression of oncogenes, tumor suppressor genes, and deregulation of cell cycle control ... Cells were harvested (using the cell-culture procedure for the detection of p53 and p21 proteins) 24 hours after irradiation ( ... Indeed, an epidemiological study by Swift and Chase10 suggested that the gene for the multisystem disorder AT, which is ...
  http://atvb.ahajournals.org/content/17/5/947
*  Digital modulation | definition of digital modulation by Medical dictionary
carrier detection. in genetic terms the detection of a heterozygote which carries the gene which is under investigation. ... carrier state. the state of being a carrier of an infectious disease or of a genetic defect. ... The carrier's offspring may inherit the defect and develop the associated disorder. ... 2. A person with one normal and one affected gene (heterozygous) for a condition which is expressed only if both genes bear the ...
  http://medical-dictionary.thefreedictionary.com/digital+modulation
*  Phenylalanine Hydroxylase Deficiency - GeneReviews® - NCBI Bookshelf
... results in intolerance to the dietary intake of the essential amino acid phenylalanine and produces a spectrum of disorders. ... Carrier (Heterozygote) Detection. Molecular genetic testing for at-risk relatives requires prior identification of the PAH ... disease-specific and/or umbrella support organizations and/or registries for the benefit of individuals with this disorder and ... Note: The genes included in the panel and the diagnostic sensitivity of the testing used for each gene vary by laboratory and ...
  https://www.ncbi.nlm.nih.gov/books/NBK1504/
*  Skewed X-inactivation - Wikipedia
Rett Syndrome is a genetic disorder caused by a mutation of the MECP2 gene on the X chromosome. The disease occurs mostly in ... This is of medical significance due to the potential for the expression of disease genes present on the X chromosome that are ... Therefore, strong skewing in females members of a family can suggest they are carriers of an X-linked disease. X Chromosome ... Recently, ratio detection has moved to more direct methods by using mRNA or protein levels, and whole exome sequencing. With ...
  https://en.wikipedia.org/wiki/Skewed_X-inactivation
*  Heterozygous | definition of heterozygous by Medical dictionary
... is asymptomatic or exhibits reduced symptoms of the disease. The offspring of a heterozygous carrier of a genetic disorder have ... heterozygote. *heterozygote. *Heterozygote advantage. *heterozygote detection. *heterozygote superiority. *Heterozygote/ ... Recessive genes are only manifest if both are present (HOMOZYGOUS).. Heterozygous. Two different genes controlling a specified ... An individual who is heterozygous for a genetic disease caused by a dominant allele, such as Huntington's disease, manifests ...
  https://medical-dictionary.thefreedictionary.com/heterozygous
*  Week 2 - Module 4: Carrier Testing - University of California, San Francisco | Coursera
Nussbaum and Norton will describe the use of genomics in the reproductive setting: carrier testing, non-invasive prenatal ... ... the prenatal genetic carrier screening arena and talk about. screening for genetic disorders in the prenatal and preconception ... And because the genes for Tay Sachs disease in non-Jewish people are less ... heterozygote screening usually for autosomal recessive disorders.. So, with these disorders, the carriers are usually ...
  https://www.coursera.org/learn/genomic-precision-medicine/lecture/vJuMj/week-2-module-4-carrier-testing
*  Tay-Sachs disease - Wikipedia
Tay-Sachs disease is an autosomal recessive genetic disorder, meaning that when both parents are carriers, there is a 25% risk ... Tay-Sachs disease is caused by a genetic mutation in the HEXA genes on chromosome 15. It is inherited from a person's parents ... When disease occurs because of two unrelated mutations, the patient is said to be a compound heterozygote. Heterozygous ... O'Brien JS, Okada S, Chen A, Fillerup DL (1970). "Tay-Sachs disease: Detection of heterozygotes and homozygotes by serum ...
  https://en.wikipedia.org/wiki/Tay%E2%80%93Sachs_disease
*  Phenylketonuria - Wikipedia
PKU is an autosomal recessive metabolic genetic disorder. As an autosomal recessive disorder, two PKU alleles are required for ... chance the child will be a carrier, and a 25% chance the child will neither develop nor be a carrier for the disease. PKU is ... being a heterozygote is advantageous. The PAH gene is located on chromosome 12 in the bands 12q22-q24.1. More than 400 disease- ... Elevated levels of phenylalanine in the blood and detection of phenylketones in the urine is diagnostic, however most patients ...
  https://en.wikipedia.org/wiki/Phenylketonuria
*  Wilson's disease: acute and presymptomatic laboratory diagnosis and monitoring | Journal of Clinical Pathology
In all subjects (healthy controls, patients with all forms of liver disease, heterozygote carriers of Wilson's disease, and ... Wilson's disease, the most common inherited disorder of copper metabolism, is a recessive genetic condition. The clinical ... Genetic investigation: mutation detection. At the time of writing there is no practical way to diagnose all patients with ... Although this approach has been possible using linked genes,31 its potential for diagnosis rather than research was realised ...
  http://jcp.bmj.com/content/53/11/807
*  Molecular and Mendelian Disorders | GLOWM
... and sickle disease (SS). The prenatal sample F has both an A and an S signal, indicating a heterozygote or carrier of the ... 2. Nucleotide sequences of bA genes, bS genes, and bC genes for codons 5-7 and Mst II cleavage sequence (c, cytosine; t, ... Mendelian disorders result from a mutation at a single genetic locus. A locus may be present on an autosome or on a sex ... nor does prenatal detection of the disease appear to improve outcomes for affected individuals. Rarely, an affected pregnancy ...
  http://www.glowm.com/section_view/heading/Molecular%20and%20Mendelian%20Disorders/item/223
*  Haemoglobinopathies - English
... eg Sickle Cell Disease ,/li,,/ul,,/ul,,/ul,,ul,,li,Heterozygote: Trait ,/li,,/ul,,ul,,li,Homozygote: Disease ,/li,,/ul, ... ul,,li," It is important to consider that an individual could be a genetic carrier for thalassaemia or HbE whenever a blood ... 2. Haemoglobin disorders as a model ,ul,,li,An Autosomal recessive disease of global importance ,/li,,/ul,,ul,,ul,,li,,5% of ... silent carrier ,/li,,/ul,,/ul,,ul,,ul,,li,2. Two gene deletions:  thal trait ,/li,,/ul,,/ul, o : both genes on one chromosome ...
  https://www.slideshare.net/dangthanhtuan/haemoglobinopathies
*  Testing for haemoglobinopathies in Johannesburg, South Africa: A 30-year review
Genetic testing is helpful to confirm diagnoses, particularly when they are complex, and for carrier testing and prenatal ... Further, the globin genes were among the first human genes cloned in the recombinant DNA era and they served as model genes for ... Hemoglobinopathies: Community Clues to Mutation Detection. In: Elles R, ed. Molecular Diagnosis of Genetic Diseases. New Jersey ... In one, the proband was a heterozygote for the βs mutation. Clinically, she had features suggestive of homozygosity for sickle ...
  http://www.scielo.org.za/scielo.php?script=sci_arttext&pid=S0256-95742013001200040&lng=es&nrm=iso&tlng=es
*  Dominant versus recessive: Molecular mechanisms in metabolic disease | SpringerLink
Knox WE, Messinger EC (1958) The detection in the heterozygote of the metabolic effect of the recessive gene for ... Jansen AC, van Aalst-Cohen ES, Tanck MW, et al (2005) Genetic determinants of cardiovascular disease risk in familial ... Genes Chromosomes Cancer 46: 617-634. doi:10.1002/gcc.20457.PubMedGoogle Scholar ... Byers PH (2001) Disorders of collagen biosynthesis and structure. In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds; Childs B, ...
  https://link.springer.com/article/10.1007%2Fs10545-008-1016-5