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Alleles in Medical News

NYU School of Medicine pathology researchers solve another mystery in B lymphocyte development

... has found that homologous immunoglobulin (lg) alleles pair up in the nucleus at stages that coincide ... preventing simultaneous recombination on both alleles and thus reducing the chance of translocations. ... researchers propose that homologous pairing of alleles undergoing recombination has a number of ...

The HLA-DRB1 gene and premature death in rheumatoid arthritis

... having the shared epitope (SE)a group of HLA-DRB1 alleles with kindred amino acid traitsplus anti-cyclic ... researchers analyses, having two copies of the SE alleles increased the risk of death from all causes and ... and smoking. Current smokers who carried 2 SE alleles and had anti-CCP antibodies had the highest risk ...

Researchers estimate risk of transmission of Huntington's disease to offspring among male carriers

... HD. While several studies suggest that male carriers of high normal alleles have a low probability of transmitting an expanded HD allele in the ... rate, frequency of no family history of HD, and frequency of high normal alleles in the general population. "The estimated probability that a male high ...

Understanding the have-knots: The role of stress in just about everything

... and his colleagues subsequently reported that children with two short alleles of the 5HTTLPR gene, whose mothers also reported receiving low social ... receiving high support did not show the tendency, and those with the long alleles but receiving low support also appeared protected by their genetic makeup. ...

Schizophrenia candidate genes affect even healthy individuals

... of these genes, called alleles. While many people who possess these risk alleles do not end up with schizophrenia, this does not mean they are unaffected ... study showed that apparently normal individuals who posses several risk alleles within these susceptibility schizophrenia genes, have indeed minute ...

Genetic marker may predict early onset of prostate cancer

... 631 men enrolled in the Prostate Cancer Risk Assessment Program at Fox Chase. Overall, while there were differences in the distribution of the alleles by race, the risk allele did not have a major contribution to disease in 400 African American men or in 231 Caucasian men with a family history of ...

ASHG hosts fourth annual DNA Day essay contest, supports genetics education efforts

... Modes of inheritance like co-dominance, incomplete dominance, and epistasis involve intricate interactions between the expression of multiple alleles and/or genes that often result in the existence of three or more varieties of traits, such as human blood markers and flower color." Molina concluded ...

Quest Diagnostics Discovers New Genetic Mutations Affecting Cystic Fibrosis Screening

... the widespread and thoughtful experience with [cystic fibrosis] mutation testing and screening continues to reveal new insights about the mutational alleles of the CFTR gene and further refinements in how best to detect them and assure appropriate quality control while doing so," said Wayne W. Grody, ...

Throwing the micro switch: MicroRNA may link smoking risk gene to neurobiology of addiction

... of the major receptors in the brain that mediate the actions of the neurotransmitter dopamine, is associated with tobacco dependence, and that two alleles of a variant within this gene are differentially expressed. "In the current study, we demonstrated that such differential expression of DRD1 is ...

Genetic risk factors play role in autoantibody-negative rheumatoid arthritis

... in disease susceptibility that can be explained by genetic factors - was about 66 percent for both ACPA-positive and ACPA-negative RA. The HLA SE alleles contributed 11 percent to the total genetic variance of RA, 18 percent to the genetic variance of ACPA-positive RA, and only about 2 percent to the ...

Gene Variant Raises Risk of Uterine Fibroids

... women. "We believe that there are multiple genetic indicators for fibroids, in addition to the TC227 allele in white women, including genetic risk alleles for predisposition specific in black women who suffer an earlier age of onset and more severe fibroid symptoms," Morton said. More information ...

AutoGenomics CYP 2C19 Test Used in Study to Personalize Clopidogrel (Plavix) Dosing in Patients

... that about 30% of the patients had at least one CYP 2C19 reduced function genetic variant". With such high incidence of these reduced functional alleles it is gratifying to note the active role that FDA is taking to re-label these drugs and help realize the promise of personalized medicine to ensure ...

Research on the effects of stem cell source and patient age on transplantation outcomes

... most closely genetically matched the patient were selected for transfusion. All non-cultured cord blood stem cells were matched for four out of six alleles for each patient. For the cultured cord blood cells, two patients received a five-out-of-six allele match and four patients received a ...

MYH9 gene variations help explain high rate of kidney disease in African-Americans

... p.m. in Room 104 of the Pennsylvania Convention Center. Dr. Winkler will also discuss new research on the geographic distribution of the MYH9 risk alleles (TH-PO107). Rates of highest-risk gene variant appear highest in populations from southern Africa; in contrast, the high-risk allele is infrequent in ...

The first autism disease genes

... that liability to autism is in large part due to oligogenic inheritance in which a combination of multiple possibly interacting susceptibility alleles results in autism. A series of multiple independent whole genome scans and chromosomal abnormality studies have pointed out several candidate regions ...

JCI online early table of contents: Aug. 1, 2008

... study provides support for the evaluation of Notch signaling pathway inhibitors as a treatment for leukemia. TITLE: Leukemia-associated NOTCH1 alleles are weak tumor initiators but accelerate K-rasinitiated leukemia AUTHOR CONTACT: Warren S. Pear University of Pennsylvania School of Medicine, ...

MicroRNAs appear essential for retinal health

... used by living things to kick-start the process of silencing unwanted genetic messages. By breeding mice that lack one or both of the forms or alleles of the gene that produces Dicer in the retina, scientists were able to observe retinal development when Dicer levels were half of normal or ...

Study raises questions about prostate cancer therapies targeting IGF-1

... IGF1 signaling. To test their reasoning they conducted a second experiment by crossing mice carrying the prostate-specific IGF-1R knockout alleles with transgenic mice that develop spontaneous prostate cancer when p53 and select other genes are compromised. The results were as predicted: ...

Schizophrenia Tied to Multiple Genetic Errors

... portion of the incidence of schizophrenia is at variance with the current dogma of the field, which is that a number of mildly deleterious, common alleles [genes] combine with environmental factors to lead to the development of schizophrenia," Holt said. "I believe that this study could lead to a ...

What are simple ways to judge the efficacy of 5-fluorouracil in colonic neoplasm?

... genotypes of TS: (1) Homozygous with two tandem repeats (2R/2R); (2) homozygous with three tandem repeats (3R/3R); (3) heterozygous with both alleles (2R/3R). It was reported that TS genes with the triple repeats have higher expression activity than those with double repeats in vitro and in vivo. ...

Gene Linked to Inflammatory Arthritis Also Raises Heart Risks

... with inflammatory arthritis. The researchers said that, for RA patients in particular, having the shared epitope (SE) -- a group of HLA-DRB1 alleles with kindred amino acid traits -- plus anti-cyclic citrullinated peptide (anti-CCP) antibodies and being a current smoker is an especially lethal ...

Genes Linked to Height Also Tied to Osteoarthritis Risk

... to know all genes responsible for height variation, so we are reassured if our baby is shorter than others because he has a collection of "short" alleles on his DNA, and not because he has something wrong, like a metabolism disorder," study co-author Serena Sanna said in a prepared statement. The ...

Scripps research scientists find new genetic mutation that halts the development of lupus

... role in lupus susceptibility. The study suggests genetic-mapping studies need to adequately distinguish between predisposing or suppressive alleles or alternate gene forms, and that other lupus-related loci might also be associated with suppressive alleles. In addition to traditional predisposing ...

Genetics May Boost Mexican-Americans' Risk for Alcoholism

... in the Los Angeles area. They focused particularly on the CYP2E1 gene, and found that people "carrying haplotype H6, the combination of the four alleles [copies] -- 1C, c2, C and A2 -- appear to have increased susceptibility to developing alcoholism," corresponding author Yu-Jui Yvonne Wan, a ...

Genetic differences point to ethnic and racial disparities in colorectal cancer risk

... that is toxic to cells. The CC version of MTHFR is considered the wild type the version most common in the population as a whole and the CT or TT alleles carry a variant T, a point mutation in which a thymine nucleic acid is substituted for a cytosine in the genes DNA. Compared to CC, enzymatic ...

1 in 7 Americans over age 70 has dementia

... age, they found no significant difference in dementia risk between males and females. As expected, they found that the presence of one or two APOE e4 alleles was linked with significantly higher risk of developing dementia. To facilitate comparison of their findings with estimates from earlier studies ...

Genes may make some people more motivated to eat, perhaps overeat

... to a lower number of dopamine D2 receptors and carried by about half the population (most of which carries one A1 and one A2; carriers of two A1 alleles are rare). The other half of the population carries two copies of A2, which by fostering more dopamine D2 receptors may make it easier to experience ...

Breeding success by delving into the honey bee sex gene

... out. "If we know more details about how many alleles there are and what their frequencies are, bee ... this effort by providing a direct tool to examine alleles from different populations." In the ... three species, evidence that the many different alleles have been preserved in these lineages for a very ...

Engineering Nutrient-Rich Plants Made For Feasible By New Findings

... and heterologous expression in yeast, Guerinot and her colleagues isolated alleles of IRT1 that no longer facilitate the accumulation of Cadmium yet retain the crucial ability to transport Iron. When the engineered IRT1 alleles are expressed in plants that no longer express a wild type copy of IRT1, ...

Highly Effective Method for Screening Drug-resistant Forms of HIV Developed

... believes that these small drug-resistant populations of HIV may explain why some patients do not respond to antiretroviral treatment, as the minor alleles can rapidly grow out, generating new populations of drug-resistant viruses. He is now planning to apply the new method to optimise ...

Genetic Marker Linked to Aggressive Prostate Cancer

... have a 60 percent increase in risk of the disease. Genetic markers, also called alleles, occupy a specific position on a chromosome. The alleles linked to the aggressive prostate cancer found by Northwestern and other labs over the past year are located on the long arm of chromosome 8. ...

Researchers Identify Genetic Mutations for Hereditary Diffuse Gastric Cancer

... detection rate). Two families from this study plus two additional families carrying the novel 2398delC mutation shared a common haplotype (a group of alleles of different genes on a single chromosome that are closely enough linked to be inherited usually as a unit), suggesting a founder effect (a ...

Alcohol Dehydrogenase Gene may Protect from Developing Alcoholism

... (ADH) is one of the major enzymes involved in alcohol metabolism. The genes for ADH are polymorphic at two loci, ADH1B and ADH1C.// The three alleles at the ADH1B locus have previously been linked with protection from alcohol dependence, a new study is the first to examine the relationship between ...

New Therapy to Treat Patients With Severely Elevated Cholesterol Levels

... drug therapy and have a very high risk of premature cardiovascular disease. Homozygous FH is caused by loss-of-function mutations in both alleles of the LDL receptor gene. It is a rare form of hypercholesterolemia affecting approximately one in every million people. Patients with this disorder ...

Strong Evidence Suggests Incidence Of Mating Of Ancestors With Neanderthals

... of a moment but because of interbreeding with related species on the verge of extinction that resulted in the introduction of variant genes called alleles which has remarkably contributed to successful evolution of humans. Many other researchers in evolutionary biology have welcomed the findings of ...

AMD influenced by Variation in 3 Genes

... this new variant with all previously reported variants to estimate individual risk of advanced AMD. They observed additive accumulation of risk from alleles at these three genes, including CFH on chromosome 1, complement factor B (BF) and complement component 2 (C2) genes on chromosome 6, and the LOC gene ...

Genetic Variation Linked to Age-Related Macular Degeneration

... late AMD and the risks increased with each successive stage to stage 11 for late AMD. Individuals homozygous (having two identical gene alleles at the corresponding site on a chromosome) for the CFH Y402H gene had a 48 percent cumulative risk of developing late AMD by age 95 years while this ...

Nepali Rhesus May be Used as an Alternate for HIV/AIDS Research

... of certain types of alleles, or pairs of genes, for genetic variations distributed across 17 chromosomes. They also looked for the presence of other alleles that are known to influence immunity and the rate of disease progression in the animals, including one that is present in Indian rhesus macaques but ...

Alzheimer's-linked apolipoprotein E produced by neurons, Gladstone study

... uniquely capable of alerting researchers whenever and wherever the apoE gene is expressed. Huang and his team have succeeded in making one of the two alleles of the apoE gene produce a green fluorescent protein that represents apoE, while the remaining allele functions normally. Thus, under a microscope, ...
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