We included 476 GC cases and 481 cancer-free controls in the peripheral blood study. We did not detect any significant differences in age and gender between the GC cases and controls (p = 0.334 and 0.766, respectively, Table 1). We identified and
genotyped seven tag SNPs (tSNP) from Y, C2, and RA domains of the PLCE1 gene, with a minor allele frequency of at least 5% in the HapMap Chinese Han population, in patients’ peripheral blood with multiplexed SNP MassEXTEND assay. The average tSNPs call rate was 99.6% in GC cases and controls. All of the tSNPs are in HWE in the control population (Table 2).
The genotype and allele frequencies of each tSNP and their associations with GC risk are shown in Table 3. We applied three widely recognized genetic models for the analysis. The allele model showed that individuals with minor alleles of two tSNPs were significantly associated with increased risk of GC (“C” of rs3765524: OR, 1.24; 95% CI,
1.00-1.54; P = 0.047. “G” of rs10509670: OR, 1.27; 95% CI, 1.03-1.58; P = 0.027). The genotype model showed that heterozygous samples of three tSNPs were associated with increased risk of GC (“CT” of rs3765524: OR, 1.34; 95% CI, 1.02-1.75; P = 0.034. “AG” of rs2274223: OR, 1.33; 95% CI, 1.02-1.74; P = 0.037. “AG” of rs10509670: OR, 1.41;
95% CI, 1.08-1.85; P = 0.012). In the dominant model, the same three tSNPs were related to GC risk (“CT/TT” of rs3765524: OR, 1.33; 95% CI, 1.03-1.73; P = 0.030. “AG/GG” of rs2274223: OR, 1.32; 95% CI, 1.02-1.71; P = 0.035. “AG/GG” of rs10509670: OR, 1.39; 95% CI, 1.08-1.81; P = 0.012).
Linkage analysis showed that the seven tSNPs of PLCE1 link to each other and could be divided into two more tightly linked blocks. Block 1 (r2 > 0.84) is composed of fou...
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...helial cells and mainly distributed in the junction of cardia and gastric fundus glands, consistent with the results of IHC on paired surgically resected tissue
samples (Fig. 2). For non-digestive system tissues, PLCE1 expression was positive in normal tissues of bladder, cerebrum, kidney, and lymph node, and negative in corresponding cancer tissues., However, its expression was positive in cancer tissues of breast and lung, but not in corresponding normal tissues (Fig. 3B). In addition, PLCE1 expression was not detected in both normal and corresponding cancer tissues of ovary, prostate gland, skin and uterus (Fig. 3C). The disparity of expression between digestive and non-digestive organs, together with the difference between normal and corresponding cancer tissues, underscores the premise that PLCE1 has complex functions in different cancers.
In the book it says "They can spend a whole lifetime worrying whether they 're carriers, and then we come along and offer them a test. Recessives and X-linked. Look what they 're doing with fragile-X nowadays. And cystic fibrosis. Just imagine the commercial possibilities if you can design and patent a probe for something like Gaucher 's disease...(69)" Recessive traits is the phenotype is seen only a homozygous recessive genotype for the traits of the interest is present. The booked talked about two of three diseases that are most common in the Ashkenazi Jewish population. The first one is Cystic fibrosis which is an inherited life-threatening disorder that effects the lungs and the digestive system. The other one mention in the book that wasn’t mention in class was Gaucher 's disease. Gaucher 's disease is a build up of fatty substances in your organs, usually in you spleen and liver. Which causes them to become bigger affecting their function. The last one that we learned in class was Tay-Sachs disease, which is a rare inherited disorder that destroys nerve cells in the brain and spinal
Ethnicity can provide individuals with wonderful traditions and celebrations of one's heritage. However, for some Ashkenazi Jews, ethnicity brings them much more than they bargained for: a rare condition causing a wide array of liver, lung, spleen, bone and bone problems. Ethnicity brings them Type I Gaucher Disease. Type II and Type III are the two other forms of this rare genetic condition, and can occur at equal frequencies in all ethnic groups. Gaucher disease was first described in 1882 by Doctor Philippe Charles Ernest Gaucher from France (2) . Type I , the most frequently seen form of the disease, can affect people of multiple ethnic backgrounds. However, its prevalence is greatest by far in the Ashkenazi Jewish population, making it the most common genetic disease within this ethnic group.
-Reilly Philip. Is It In Your Genes. Cold Spring Harbor Laboratory Press. 2004: 223-228. Print
Alpha-1 Antitrypsin Deficiency is the most common potentially fatal genetic disorder of adult Caucasians in the U.S. The incidence of Alpha-1 Antitrypsin Deficiency is suspected to be between 1/2500 and 1/3000. (Alpha-1 Foundation.) Alpha-1 Antitrypsin Deficiency c...
Brooker R J. Genetics: Analysis and Principles. Twin Cities (MN): McGraw Hill; 2005. 842 p.
This study utilized HeLa, Caski, and SiHa lines of cervical carcinoma cells as well as H8 line
Robert Preidt wrote an article on the Department of Health and Hospitals website called “Genes Tied to High Blood Pressu...
Our mitochondrial research and other clinical experiences lead us to the speculation that numerous unrecognized hereditary issues are seen in the Amish Mercer District. This is with regards to research directed by the “Clinic for Special Children in Strasburg, Pa.,” established and drove by Holmes Morton. The center is a complete nurture of Amish individuals in and around the Lancaster Region. Morton has widely described this populace hereditarily, including variation investigation through entire genome and exome sequencing. Of course, the Old Order Amish show huge populace difference from the general European populace. All the more shockingly, hereditary variations in the Old Order Amish secluded in Lancaster likewise vary from those in “Big Valley, Pa.,” and those in “Cuyahoga County,
Family members not only share genes but they also share a similar environment and lifestyle; therefore, a resemblance in traits may suggest a correlation between genetics and the environmental-lifestyle. Most individuals can determine the traits on the outside which are passed down from generation to generation such as eye color and hair color. Individuals do not always recognize the health traits which are not as visible, like being at risk for certain diseases such as asthma, diabetes, cancer and heart disease. Traits such as high blood pressure are influenced by both genes and environment or a “nature” and “nurture” process (McCance, Huether, Brashers, & Rote, 2010). In most diseases, biological factors such as heredity, age and gender can increase the probability of developing chronic conditions.
8. Blatt, Robin JR."An Overview of genetic screening and diagnostic Tests in Health Care". Obtained from the WWW: http://www.geneletter.org/0996/screening.htm
Taylor, J., Loney, B. R., Bobadilla, L., Loacono, W.G., & McGue, M. (2003). Genetic and
The evolution of studying and documenting genetic diseases in the scientific community has been one of exponential growth, this is important because it helps communities
The simulation study showed that the additional information of CNP could increase the accuracy of predicted genotypic value, compared to using SNP information alone in an association study. The accuracy was heavily dependent on the heritability of CNP phenotypes (correlation of CNP genotype and phenotype) (Table 3). The higher accuracy of the prediction with CNP information might also result in smaller mean squared errors of prediction (Table 4)’.
Most people believe that biological factors play a huge role in members of a family becoming ill. We often think that our genetic makeup will ultimately lead our health down the same paths as earlier members of our families that have suffered from illnesses. While this concept may appear to be rather common, genetic factors show likelihood that the possibility is there, but not a certitude. In some cases of cardiovascular problems or cancer, having the genes create predispositions or proneness to a specific type of action; however, to say it would be without a doubt would be a fallacy.
Blood and urine based biomarkers used in molecular pathology are only indicative of the average response of the cell population affected with little or no information of the range of response or variability form areas of tissue (Naddler and Langley 2001)