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

... a low probability of transmitting an expanded HD allele in the penetrant range, few studies have ... of an offspring inheriting an expanded allele from a father with a high normal allele by applying probability definitions and rules to ...

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

... this pairing and helps ensure that only one allele undergoes recombination at a time (a process ... found that RAG-mediated cleavage occurs on one allele at a time at every stage of Igh and Igk ... introduction of a double-strand break on one lg allele induces repositioning of its homologous partner ...

Genetic marker may predict early onset of prostate cancer

... prostate cancer patients who carry the T allele of Met160Val are more likely to have a prostate ... who have the C allele. To find out if the T allele is clinically relevant in men who are at high ... the distribution of the alleles by race, the risk allele did not have a major contribution to disease in ...

Gene Mutation Doubles Risk of Aggressive Colon Cancer in Blacks

... of p53 mutations. However, the frequency of Pro72 allele of p53 was found in 17 percent of blacks and in only 7 percent of whites. The Arg72 allele was found in 36 percent of whites, and in 19 percent of blacks. The presence of Pro72 allele in blacks was associated with a more than twofold ...

Increase in P53 mutation linked to advanced colorectal cancer in blacks

... mutations. However, the frequency of the Pro72 allele was higher in blacks at 17 percent compared with 7 percent among whites. By contrast, the Arg72 allele frequency was higher in whites at 36 percent than ... was 19 percent. Presence of the Pro72 allele in blacks was associated with a more than ...

Gene Variant Raises Risk of Uterine Fibroids

... white women who test positive for the TC227 allele in their HMGA2 gene may be more likely to develop ... is linked to a person's height and the TC227 allele may be part of the gene. "This genetic ... one day undergo diagnostic testing for the TC227 allele to determine whether she's genetically ...

Spoonful of Sugar Really Might Help Medicine Go Down

... and found that children who had inherited one allele from a parent were more likely to be sensitive to bitter tastes, while those with an allele from both parents were very sensitive to bitter ... 5 to 50. They found that children with one bitter allele were more sensitive than were adults with the ...

Other highlights in the April 29 JNCI

... women who carry two copies of the CYP2D6 *4 allele have less endoxifen in their blood than women who carry two copies of the wild-type allele for CYP2D6 . The lower serum concentration of ... is known about tamoxifen metabolism and CYP2D6 allele types and their impact on the risk of recurrence ...

ADH2 and ALDH2 are associated with esophageal cancer

... research reported that the ALDH2*1/*2 and ADH2*1 allele potentiate the carcinogenic effects of alcohol on ... in those with active ALDH2 after drinking. ADH2*1 allele carriers tend to have experienced binge-drinking ... alcohol drinkers carrying ALDH2*1/*2 or ADH2*1 allele had a higher risk of developing esophageal ....

Gene linked to increasingly common type of blood cancer

... Researchers found that, for SNP rs6457327, the presence of the G allele a DNA letter that varies within the genome was protective against follicular lymphoma, while the presence of the A allele was predictive of an increased risk of developing follicular lymphoma. Dr. ...

Risk of cancer

... itself causes only a slightly increased risk of cancer. However, the risk allele is carried by 75% of people of European origin and by almost 100% of ... the development of colorectal cancer. The scientists showed that the risk allele strengthens the binding of a regulatory factor in cancer cells, which ...

Few DNA repair genes maintain association with cancer in field synopsis

... after the researchers adjusted for multiple comparisons. An XRCC1 allele (-77 T>C) and an allele of ERCC2 (codon 751) were associated with lung cancer risk. "The lack ...

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

... For the cultured cord blood cells, two patients received a five-out-of-six allele match and four patients received a four-out-of-six allele match. There was an average CD34+ increase of 160 (range 41 to 382), ...

LOH analysis on 4q in sporadic colorectal carcinoma

... gene (TSG) inactivation is described by two-hit modes in which one allele is mutated (or promoter hypermethylation or a small intragenic deletion) and the other allele is lost through a number of possible mechanisms, resulting in LOH at ...

Easy Baby or Fussy -- It May Be Out of Mom's Control

... and had more attention problems than the other children, according to the study. The findings "suggest that it is possible that the DRD4 long allele plays different roles (for better and for worse) in child temperament," the researchers said. They added that the pattern of frontal cortex activity ...

Boys May Feel a Genetic Pull Toward Gangs

... and one Y-chromosome, possess only one copy of this gene, while females, who have two X-chromosomes, carry two," Beaver said. "Thus, if a male has an allele (variant) for the MAOA gene that is linked to violence, there isn't another copy to counteract it. Females, in contrast, have two copies, so even if ...

Study Refutes Depression Gene Finding

... between stressful events and this gene mutation, either in men or women. "I was surprised by this [but] I haven't give up yet on this particular allele [mutation] as having an effect. It just may be that it's not as big an effect as we thought," said Young, who's also with the VA Center of Excellence ...

Genetic analysis may predict risk of invasive bladder cancer

... with BCG therapy, the current treatment standard for non-muscle invasive bladder cancer. If a patient had a genotype containing the variant allele of the iNOS gene, there was a significant reduction in the risk of recurrence compared with those patients who did not have this variance. ...

Genetic variants predict recurrence of bladder cancer, patient survival

... with the same treatment. The results suggest that BCG may be more effective when administered to individuals with genotypes containing the variant allele of the iNOS gene. "We aimed to determine why some patients respond to BCG and others don't," said lead author Hushan Yang, Ph.D., a postdoctoral ...

Gene Variant Allies Autism, Gastrointestinal Woes

... and a GI problem." The authors looked at medical histories and genetic profiles of 918 individuals with autism from 214 families. The MET C allele was linked with autism spectrum disorder and GI problems in 118 families who had at least one child with both conditions. No such link was found ...

Gene Variant Tied to Severity of Drinking

... at UVA's School of Medicine, said in a news release from the university's health system. "Specifically, we found that individuals with the 'G' allele of this variant drink less than individuals with the 'T allele.' " The findings, published in the February issue of Alcoholism: Clinical & ...

UVA researchers uncover gene's role in severity of drinking

... Li, Ph.D., professor of psychiatry and neurobehavioral sciences in the UVA School of Medicine. "Specifically, we found that individuals with the 'G' allele of this variant drink less than individuals with the 'T' allele." Previous studies have shown that the neurochemical serotonin mediates the ...

Studies on Smoking Genes and Transcriptional Control of Chronic Fatigue Syndrome Revealed in Molecular Medicine

... among those who had trouble quitting and those who stopped without much trouble. In short, subjects who smoke or have smoked had a different genetic allele frequency than those who never smoked. Other researchers have also found similar patterns in genome-wide association studies with cigarettes and ...

SNPs of ABC transporter genes linked to lung cancer risk

... found that certain variants were found much more often in individuals with lung cancer than in cancer-free controls. Patients who had the variant allele of either ABCB1 rs3842 or ABCC1 rs212090 had a significantly increased risk of developing lung cancer. The former variant was particularly associated ...

Genome-wide Association Studies Must Account for Ancestry

... F. Seldin, MD, PhD, of University of California Davis, and Peter K. Gregersen, MD, of The Feinstein Institute for Medical Research, have identified allele frequency differences among ethnic groups and subgroups that can result in statistical errors in genetic studies and alter the outcome of the study. ...

IDO2 an active enzyme to target in pancreatic cancer

... to evaluate how many patients harbor an active enzyme in relation to well-known polymorphisms: R235W and Y359STOP. Presumably, only one functional allele needs to be present in order to have an active IDO2 enzyme. Nineteen percent of the patients were homozygous wild-type, meaning they had two ...

Presentations at AHA expand on clinical utility of deCODE's DNA-based tests

... risk for recurrent AF." Jeffrey Gulcher, deCODE genetics. 2:30-2:45pm, room 350-351, presentation number 5090, "Impact of adding a single allele in the 9p21 locus to traditional risk factors on risk classification for coronary heart disease and implications for lipid-modifying therapy in the ...

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

... 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 Europeans, and "rare to absent" in Asians. The findings suggest that selection of the high-risk MYH9 risk variants was an ancient ...

Also in the Oct. 28 JNCI

... age at diagnosis of breast or ovarian cancer. "We propose that skewed X inactivation arises as a mechanism to favor expression of an X-linked allele that protects against cancer and that skewed X inactivation may be exacerbated in BRCA1 mutation carriers due to BRCA1 mutationrelated overexpression ...

Alzheimer's Protein Tied to HIV Progression

... this study, the researchers analyzed 1,267 HIV-positive people and 1,132 people without HIV. They found that HIV patients with two copes of the apoE4 allele had a much faster disease course and progression to death than those with two copies of the apoE3 allele. While apoE4 helped HIV invade cells, it ...

Common Genetic Variant Tied to Lung Cancer Risk

... an independent risk factor, accounting for about a three-to-five-fold increase in risk on its own. "Our results demonstrated that the alpha1-ATD allele can double an individual's lung cancer risk regardless of smoking history, and also confirmed that COPD is an independent risk factor for lung ...

Small Brain Lesions More Common Than Thought in Those Over 60

... of people aged 60 to 69, to 38 percent in people over age 80. The researchers also found that microbleeds were more common in people with the e4 allele of the APOE gene, which is known to increase the risk of Alzheimer's disease and of cerebral amyloid angiopathy. "We also found that the risk ...

Brain imaging and genetic studies link thinking patterns to addiction

... on a variant of a gene called COMT. The mutation is associated with lower dopamine levels, and the study showed that people with two copies of this allele (resulting in the lowest dopamine levels) had significantly higher frontal and parietal activity and chose now over later significantly more often. ...

DMP1 deletion cooperates with oncogenic K-ras in lung cancer

... especially those which retained the intact Arf-p53 pathway, explains Dr. Inoue. Since hDMP1 loss-of-heterozygosity lung cancer cells retain one allele of the hDMP1 locus, this gene might be a promising target for future drug development. ...

Genetic variation affects smoking cessation treatment

... Participants were then provided with either placebo or bupropion treatment for ten weeks. The authors discovered that individuals with the CYP2B6*6 allele of the gene benefited from bupropion treatment and maintained abstinence longer while doing poorly on placebo, with a 32.5% abstinent rate vs. 14.3%, ...

Alcohol Dehydrogenase Gene may Protect from Developing Alcoholism

... to examine the relationship between the ADH1B*3 allele and alcohol-related disorders among Afro-Trinidadians. Findings indicate that while the ADH1B*3 allele appears to protect against alcoholism, it can ... that young African Americans with the ADH1B*3 allele tend to have a more intense response to alcohol, ...

Researchers Identify Sipa 1 Gene, Responsible For Cancer Metastasis

... transfection assays demonstrated that the FVB allele is less efficient than the DBA allele at reducing the activity of GTP-RAP1. AQP2 ... with the DBA allele. So, cells expressing the FVB allele will have reduced levels of Rap-GTP activity. ...

Discovery in Male Mice Gives Hope in Providing Clues to Find Infertility in Men

... that blocks meiosis in its tracks, preventing sperm production. The mutant allele (one version of the pair of genes we inherit from each parent) is ... mice. They then analyzed the DNA of the sterile males and identified the allele that caused the infertility. While most studies on the genetics of ...

Newborns' Cerebral Palsy Risk Increased By Alzheimer's Gene

... injury. Overall findings from the study showed that carrying the E4 allele was associated with greater than a threefold-elevated risk for cerebral ... with age and the nature of the brain injury. "People who carry the E4 allele may not be able to recover as effectively from a brain injury, making ...
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