83 research outputs found
Familial testis cancer: selection of candidate genes from Xq27
No full textIn the not so distant past, in the quest for the basis of genetic disease, it was necessary to have some understanding of the biochemical defect in the cell. However, since the 1980's positional cloning has transformed the way that genes are investigated, allowing for localization of disease genes based only on their approximate gene location. The discovery of genes by positional cloning is a general problem, which has accompanied the explosion of sequence data provided by the Human Genome Project. As the sequence annotation becomes more complete and genes are moved from hypothetical to confirmed status, more information will be available to the researcher using positional cloning to identify genes that are implicated in disease processes. This thesis illustrates the process involved in analyzing sequence data in relation to a specific disease, familial cancer of the testis. A linkage study published in 2000 supports linkage to Xq27 in families with bilateral testis cancer and undescended testicles. The entirety of Xq27 was used in consideration of candidate genes for familial testis cancer. Candidate genes were selected based on their position, expression, and function, where known. MAGE family, SPANX family, FMR1, SOX3, and FGF13 were selected as probable candidates, based on a set of selection criteria. The process involved in selecting these candidate genes is a necessary step that must precede the characterization of individual patient samples, and the meta-analysis performed for this thesis has broad applicability to similar situations.Includes bibliographical references (leaves 53-58)California State University, Northridge. Department of Biology
Perceived risk of breast cancer and adherence to screening guidelines in Armenian American women
No full textAn increased risk perception of breast cancer development and a more favorable attitude toward screening practices have been previously reported to be associated with adherence to breast cancer screening guidelines. Information regarding relevant cancer screening guidelines is an important component of cancer genetic counseling sessions. Genetic counselors in the Los Angeles area serve a culturally diverse community, and acquiring an awareness of the perceptions of distinct populations may enhance communication in the health care setting. Los Angeles County holds one of the largest Armenian communities in America. No published studies have examined the risk perceptions and attitudes of Armenian Americans with respect to breast cancer and screening. The purpose of this study was to determine the relationship of risk perception and attitudes towards breast cancer screening practices in Armenian American women. The information obtained from the study may improve communication regarding breast cancer risk communication and screening in genetic counseling sessions. Surveys were administered to 58 Armenian American women from four different organizations in the Greater Los Angeles area to assess demographic characteristics, cultural attributes, risk perception, attitudes towards screening, screening practices, attitudes towards genetic counseling, and interactions with health care providers. Attitudes towards screening were measured by the willingness to perform screening and the worry associated with screening. Simultaneous multiple regression analysis was performed and demonstrated no relationship of numeric risk perception, affective risk perception, willingness to perform screening, and worry related to screening practice with adherence to breast cancer screening guidelines. The values of R2 for breast self-examination, clinical breast examination, and mammography screening were 0.036, 0.064, and 0.183, respectively. A fear of bad results was cited as the most common cause of worry about screening, reluctance to practice screening, and disinterest in genetic counseling. Future research should delineate the factors contributing to risk perception and adherence to breast cancer screening guidelines in Armenian American women.Includes bibliographical references (leaves 50-56)California State University, Northridge. Department of Biology
Family communication of BRCA genetic testing among Latina women: a qualitative study
No full textWith the discovery of breast and ovarian cancer predisposition mutations in the BRCAJ and BRCA2 genes, it was possible to distinguish between individuals who may be predisposed to developing these cancers. Being carriers of mutations in either of these genes confers a 4- to 8-fold increased risk of developing breast and/or ovarian cancer when compared to the general population. DNA sequencing and rearrangement testing of the BRCA genes allows for the identification of individuals who are at high risk for developing cancer. Because of confidentiality and privacy laws, identified carriers are left to disclose test results to at-risk family members. Studies of family communication for those who attended genetic cancer risk assessment for BRCA mutations have shown that while patients do share their genetic information with family members, barriers such as family rifts or loss of contact with certain family members can impair communication. BRCAJ and BRCA2 mutations have been identified worldwide, across different races and ethnic groups, including the Latino population. The number of Latinos in the US continues to rise and BRCA genetic testing has become more available within this group. It is important to look at how Latino families communicate about cancer and their BRCA carrier status. This study consists of audiotape-recorded interviews, following open- ended questions of 18 participants. Data was analyzed using a qualitative grounded theory approach. The purpose of this study was to describe the experiences of Latina women who underwent BRCA genetic testing, when disclosing genetic test results to family members. Based on the cultural values of Latina women, it was hypothesized that participants would: willingly disclose their carrier status to at-risk family members, barriers such as distance or strained relationships would inhibit the disclosure process, the index case, also known as the first person to be tested within a family, would be the one to disseminate the genetic information within the family. Analysis found that all 18 participants told at least one family member, factors such as distance and difficult relationships were barriers to the flow genetic information within the family. Difficulties related to strained relationships as well as themes of denial made the dissemination of the genetic information challenging.California State University, Northridge. Department of Biology.Includes bibliographical references (leaves 52-57
Background knowledge and perceptions of dwarfism among young adults and the influence of mass media: an experimental study
No full textThis was a novel experimental study which focused on the influence of mass media on young adults regarding their knowledge and perceptions about dwarfism. Utilization of mass media as a positive learning tool regarding genetic conditions could be useful in promoting accurate education and reducing stigma about these conditions. Fifty-seven students from California State University, Nmihridge participated, and were part of either a control or experimental group. The background knowledge and perceptions of dwarfism of all participants were measured through pre-test surveys. Following either manipulation (watching a popular television show or listening to a lecture), all participants were given post-test surveys to measure any changes in answers compared to pre-test surveys. Results demonstrated few significant changes within or between groups regarding knowledge and perceptions about dwarfism. However, significant differences between each manipulation as a learning tool were seen. The use of mass media was shown to teach paiiicipants more appreciation and understanding of the daily lives of individuals with dwarfism, while the lecture was shown to teach participants more about dwarfism as a medical condition. This reveals specific benefits in utilizing either manipulation in certain circumstances.Includes bibliographical references (leaves 49-50)California State University, Northridge. Department of Biology
Fetal chromosome abnormalities resulting in miscarriage in older and younger women
No full textAn estimated 15-20% of all recognized pregnancies end in miscarriage. Chromosomal abnormalities account for at least 50% of all miscarriages and approximately 60% of pregnancies lost within the first trimester. The correlation between advanced maternal age and the likelihood of a fetal trisomy is well established. It is also known that trisomy leads to a high likelihood of spontaneous pregnancy loss. The purpose of this study was to investigate whether women of advanced maternal age have an increased likelihood of having experienced a miscarriage due to fetal trisomy. Analysis of 322 products of conception revealed that a finding of fetal trisomy was associated with a mean maternal age of 38 years, whereas a finding of fetal euploidy was associated with a mean maternal age of 33 years. This suggests that genetic counseling for pregnancy loss should differ, depending on maternal age. The second part of the study was designed to investigate the impact of these results on genetic counseling; it was determined that many genetic counselors are knowledgeable about the relationship between maternal age and fetal trisomy, and counsel women accordingly.Includes bibliographical references (leaves 55-62)California State University, Northridge. Department of Biology
Family communication of BRCA genetic testing among Latina women: A qualitative study
No full textIncludes bibliographical references (leaves 52-57)With the discovery of breast and ovarian cancer predisposition mutations in the BRCAJ and BRCA2 genes, it was possible to distinguish between individuals who may be predisposed to developing these cancers. Being carriers of mutations in either of these genes confers a 4- to 8-fold increased risk of developing breast and/or ovarian cancer when compared to the general population. DNA sequencing and rearrangement testing of the BRCA genes allows for the identification of individuals who are at high risk for developing cancer. Because of confidentiality and privacy laws, identified carriers are left to disclose test results to at-risk family members. Studies of family communication for those who attended genetic cancer risk assessment for BRCA mutations have shown that while patients do share their genetic information with family members, barriers such as family rifts or loss of contact with certain family members can impair communication. BRCAJ and BRCA2 mutations have been identified worldwide, across different races and ethnic groups, including the Latino population. The number of Latinos in the US continues to rise and BRCA genetic testing has become more available within this group. It is important to look at how Latino families communicate about cancer and their BRCA carrier status. This study consists of audiotape-recorded interviews, following open- ended questions of 18 participants. Data was analyzed using a qualitative grounded theory approach. The purpose of this study was to describe the experiences of Latina women who underwent BRCA genetic testing, when disclosing genetic test results to family members. Based on the cultural values of Latina women, it was hypothesized that participants would: willingly disclose their carrier status to at-risk family members, barriers such as distance or strained relationships would inhibit the disclosure process, the index case, also known as the first person to be tested within a family, would be the one to disseminate the genetic information within the family. Analysis found that all 18 participants told at least one family member, factors such as distance and difficult relationships were barriers to the flow genetic information within the family. Difficulties related to strained relationships as well as themes of denial made the dissemination of the genetic information challenging
Genetics education in Armenian high school students: a quantitative study aimed at increasing awareness of genetic counseling and familial Mediterranean fever in the Armenian community
No full textFamilial Mediterranean fever (FMF) is a treatable, autosomal recessive condition that is prevalent in the Armenian population. Armenians are not well represented in the genetic counseling profession possibly due to a lack of awareness of the field. Educating Armenian high school students about FMF and genetic counseling will help raise awareness of FMF and may increase the number of Armenian applicants to genetic counseling programs. This study surveyed Armenian high school students (n = 31) in order to assess their knowledge of genetics, genetic counseling, and FMF. Correlations were found between certain predictor variables and knowledge of genetics, genetic counseling, and FMF. Age, presence of genetic disease in the family, and previous class in genetics correlated with knowledge of genetics. Gender, family history of a genetic condition, and interest in science correlated with knowledge of genetic counseling. Unexpectedly, more than half of the students who were knowledgeable about genetic counseling reported a previous class in genetics. Parental level of education correlated with knowledge of FMF. These findings suggest that students who had a class in genetics and who had a family history of a genetic condition were more likely to know about genetics and genetic counseling. However, only parental educational level correlated with knowledge of FMF. While nine students in the sample had heard of the condition, only three of the nine knew that FMF is a treatable condition. Considering the population of students attending the high school and prevalence of FMF in Armenians, FMF should be included in the genetics lectures at the school. It is dear that Armenian high school students are learning about genetic counseling in their high school classes, yet there is still an underrepresentation of Armenian genetic counselors. This study has shown that although it is important to educate Armenian students about genetic counseling and FMF, it is just as important to educate teachers, career counselors, and parents about these topics so that they, in turn, can increase awareness and knowledge in their community.California State University, Northridge. Department of Biology.Includes bibliographical references (leaves 59-64
Uptake of surgical prophylaxis in underserved, ethnic minority <i>BRCA</i> mutation carriers.
No full text 45 Background: Little data exist regarding uptake of surgical prophylaxis in the underserved clinical setting. This study describes acceptance of surgical prophylaxis amongst BRCA mutation carriers in a primarily Hispanic (60%) and Asian (15%) medically underserved population. Methods: An IRB-approved retrospective chart review of deleterious or suspected deleterious BRCA mutations carriers extracted clinicopathologic data, surgical history, and family cancer history. Patients younger than the recommended age of prophylaxis, undergoing active therapy, or with metastatic cancer were excluded. Results: Forty-six carriers of known or suspected deleterious BRCA mutations expressed decisions regarding prophylactic bilateral salpingo-oophorectomy and/or mastectomy. Thirty nine women identified themselves as Hispanic, 32 from Mexico. Three women were Asian, 2 African American and 1 Middle Eastern. Forty-two patients were previously affected by cancer, with a mean age at first cancer diagnosis of 42. Four patients were unaffected. Thirty-two women with a previous cancer diagnosis accepted prophylaxis: 11 RRM plus RRSO, 10 RRSO only, 11 RRM only. Three unaffected women underwent RRSO only. None of the unaffected patients chose RRM only. Presence of an affected family member younger than 35 at time of cancer diagnosis correlated with uptake of prophylactic surgery (18 accepted vs. 1 declined; p=0.01). There was a trend towards acceptance of prophylaxis among women with earlier TNM stage that did not reach statistical significance. Conclusions: More than 50% of eligible BRCA mutation carriers in this medically underserved population underwent RRM, RRSO, or both. Young family members affected with cancer positively influenced acceptance of surgical prophylaxis. [Table: see text] </jats:p
Lack of netrin-4 modulates pathologic neovascularization in the eye
No full textNetrins are a family of matrix-binding proteins that function as guidance signals. Netrin-4 displays pathologic roles in tumorigenesis and neovascularization. To answer the question whether netrin-4 acts either pro-or anti-angiogenic, angiogenesis in the retina was assessed in Ntn-4(-/-) mice with oxygeninduced retinopathy (OIR) and laser-induced choroidal neovascularization (CNV), mimicking hypoxiamediated neovascularization and inflammatory mediated angiogenesis. The basement membrane protein netrin-4 was found to be localised to mature retinal blood vessels. Netrin-4, but not netrin-1 mRNA expression, increased in response to relative hypoxia and recovered to normal levels at the end of blood vessel formation. No changes in the retina were found in normoxic Ntn-4(-/-) mice. In OIR, Ntn-4(-/-) mice initially displayed larger avascular areas which recovered faster to revascularization. Ganzfeld electroretinography showed faster recovery of retinal function in Ntn-4(-/-) mice. Expression of netrin receptors, Unc5H2 (Unc-5 homolog B, C. elegans) and DCC (deleted in colorectal carcinoma), was found in Muller cells and astrocytes. Laser-induced neovascularization in Nnt-4(-/-) mice did not differ to that in the controls. Our results indicate a role for netrin-4 as an angiogenesis modulating factor in O-2-dependent vascular homeostasis while being less important during normal retinal developmental angiogenesis or during inflammatory neovascularization.Deutsche Forschungsgemeinschaft [DFG JO 324/10-1, DFG JO 324/6-2, DFG SFB 612/B14]; Ilse-Palm Stiftung; European Commission [316990]; LOM of Charite Universitatsmedizin BerlinSCI(E)[email protected]
Functional Characterisation of Alpha-Galactosidase A Mutations as a Basis for a New Classification System in Fabry Disease
No full textThis is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.The study has been supported partially by an unrestricted scientific grant from Shire Human Genetic Therapies (Germany
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