【目的】探讨8个家族性特发性基底节钙化（FIBGC）家系的临床特点及遗传规律。【方法】收集8个FIBGC家系，根据临床表现分为运动受损组和精神症状组，绘制家系图，分析先证者及家系其他患者的发病年龄、临床表现、基底节区钙化的体积，...【目的】探讨8个家族性特发性基底节钙化（FIBGC）家系的临床特点及遗传规律。【方法】收集8个FIBGC家系，根据临床表现分为运动受损组和精神症状组，绘制家系图，分析先证者及家系其他患者的发病年龄、临床表现、基底节区钙化的体积，总结遗传规律。【结果】8个家系均呈常染色体显性遗传，先证者的性别比：男／女-4／4；患者的性别比：男／女-18／17，两组先证者人数构成比：运动受损／精神症状-4／4，运动受损组与精神症状组性别比（男／女）无显著性差异[（3／1）vs（1／3），P〉0．05]。两组先证者的发病年龄[（43．00±3．16）岁vs（29．50±6．95）岁]和基底节区钙化的体积[（1.526±0．679）cm3 vs （0．233±0．114）cm3]比较差异具有统计学意义（P〈0．05）。临床特点：患者均表现为一个系统损害的症状，运动系统受损或者精神症状。以运动受损的4个家系其他成员发病的症状也以运动受损为特点，精神症状为主的4个家系仅5人有精神症状，其他成员均没有临床症状。【结论]FIBGC临床表现具有明显的异质性，以运动受损的患者其病情严重程度与基底节区钙化病灶的大小相关，且发病年龄较晚，家系成员临床症状具有遗传性；以精神症状为主的患者其基底节区钙化病灶小，发病年龄早，家系成员临床症状遗传性不明显。展开更多
Gallbladder cancer is a malignancy of biliary tract which is infrequent in developed countries but common in some specific geographical regions of developing countries. Late diagnosis and deprived prognosis are major ...Gallbladder cancer is a malignancy of biliary tract which is infrequent in developed countries but common in some specific geographical regions of developing countries. Late diagnosis and deprived prognosis are major problems for treatment of gallbladder carcinoma. The dramatic associations of this orphan cancer with various genetic and environmental factors are responsible for its poorly defined pathogenesis. An understanding to the relationship between epidemiology, molecular genetics and pathogenesis of gallbladder cancer can add new insights to its undetermined pathophysiology. Present review article provides a recent update regarding epidemiology, pathogenesis, and molecular genetics of gallbladder cancer. We systematically reviewed published literature on gallbladder cancer from online search engine Pub Med(http://www.ncbi.nlm.nih.gov/pubmed). Various keywords used for retrieval of articles were Gallbladder, cancer Epidemiology, molecular genetics and bullion operators like AND, OR, NOT. Cross references were manually searched from various online search engines(http://www.ncbi.nlm.nih.gov/pubmed,https://scholar.google.co.in/, http://www.medline.com/home.jsp). Most of the articles published from 1982 to 2015 in peer reviewed journals have been included in this review.展开更多
The aetiology of primary sclerosing cholangitis (PSC) is not known. A more than 80-fold increased risk of PSC among first-degree relatives emphasizes the importance of genetic factors. Genetic associations within the ...The aetiology of primary sclerosing cholangitis (PSC) is not known. A more than 80-fold increased risk of PSC among first-degree relatives emphasizes the importance of genetic factors. Genetic associations within the human leukocyte antigen (HLA) complex on chromosome 6p21 were detected in PSC 25 years ago. Subsequent studies have substantiated beyond doubt that one or more genetic variants located within this genetic region are important. The true identities of these variants,however,remain to be identified. Several candidate genes at other chromosomal loci have also been investigated. However,according to strict criteria for what may be denominated a susceptibility gene in complex diseases,no such gene exists for PSC today. This review summarises present knowledge on the genetic susceptibility to PSC,as well as genetic associations with disease progression and clinical subsets of particular interest (inflammatory bowel disease and cholangiocarcinoma).展开更多
The short report will be focused on the genetic basis and possible mechanisms of tumorigenesis, common types of cancer, the importance of genetic diagnosis of cancer, and the methodology of cancer genetic diagnosis. T...The short report will be focused on the genetic basis and possible mechanisms of tumorigenesis, common types of cancer, the importance of genetic diagnosis of cancer, and the methodology of cancer genetic diagnosis. They will also review presymptomatic testing of hereditary cancers, and the application of expression profiling to identify patients likely to benefit from particular therapeutic approaches.展开更多
The initiation and progression of cancer not only involves genetic abnormalities, but also epigenetic alterations, such as DNA methylation and histone modifications. Epigenetics refers to the heritable changes that do...The initiation and progression of cancer not only involves genetic abnormalities, but also epigenetic alterations, such as DNA methylation and histone modifications. Epigenetics refers to the heritable changes that do not involve any structural changes in the target gene, i.e., DNA sequence and protein sequence. Thus, these epigenetic aberrations are potentially reversible, allowing the malignant cells to revert to a state with more normal characteristics. The use of epigenetics is emerging as an effective and promising approach to treat cancer. Epigenetic drugs, which target two well- known epigenetic pathways, namely, DNA methyltransferases and histone deacetylases, are already being applied for the cancer treatment. In the current study, an overview regarding the under-standing of epigenetic alterations in the development of cancer and the current state of epigenetic drug discovery is provided.展开更多
文摘【目的】探讨8个家族性特发性基底节钙化（FIBGC）家系的临床特点及遗传规律。【方法】收集8个FIBGC家系，根据临床表现分为运动受损组和精神症状组，绘制家系图，分析先证者及家系其他患者的发病年龄、临床表现、基底节区钙化的体积，总结遗传规律。【结果】8个家系均呈常染色体显性遗传，先证者的性别比：男／女-4／4；患者的性别比：男／女-18／17，两组先证者人数构成比：运动受损／精神症状-4／4，运动受损组与精神症状组性别比（男／女）无显著性差异[（3／1）vs（1／3），P〉0．05]。两组先证者的发病年龄[（43．00±3．16）岁vs（29．50±6．95）岁]和基底节区钙化的体积[（1.526±0．679）cm3 vs （0．233±0．114）cm3]比较差异具有统计学意义（P〈0．05）。临床特点：患者均表现为一个系统损害的症状，运动系统受损或者精神症状。以运动受损的4个家系其他成员发病的症状也以运动受损为特点，精神症状为主的4个家系仅5人有精神症状，其他成员均没有临床症状。【结论]FIBGC临床表现具有明显的异质性，以运动受损的患者其病情严重程度与基底节区钙化病灶的大小相关，且发病年龄较晚，家系成员临床症状具有遗传性；以精神症状为主的患者其基底节区钙化病灶小，发病年龄早，家系成员临床症状遗传性不明显。
文摘Gallbladder cancer is a malignancy of biliary tract which is infrequent in developed countries but common in some specific geographical regions of developing countries. Late diagnosis and deprived prognosis are major problems for treatment of gallbladder carcinoma. The dramatic associations of this orphan cancer with various genetic and environmental factors are responsible for its poorly defined pathogenesis. An understanding to the relationship between epidemiology, molecular genetics and pathogenesis of gallbladder cancer can add new insights to its undetermined pathophysiology. Present review article provides a recent update regarding epidemiology, pathogenesis, and molecular genetics of gallbladder cancer. We systematically reviewed published literature on gallbladder cancer from online search engine Pub Med(http://www.ncbi.nlm.nih.gov/pubmed). Various keywords used for retrieval of articles were Gallbladder, cancer Epidemiology, molecular genetics and bullion operators like AND, OR, NOT. Cross references were manually searched from various online search engines(http://www.ncbi.nlm.nih.gov/pubmed,https://scholar.google.co.in/, http://www.medline.com/home.jsp). Most of the articles published from 1982 to 2015 in peer reviewed journals have been included in this review.
文摘The aetiology of primary sclerosing cholangitis (PSC) is not known. A more than 80-fold increased risk of PSC among first-degree relatives emphasizes the importance of genetic factors. Genetic associations within the human leukocyte antigen (HLA) complex on chromosome 6p21 were detected in PSC 25 years ago. Subsequent studies have substantiated beyond doubt that one or more genetic variants located within this genetic region are important. The true identities of these variants,however,remain to be identified. Several candidate genes at other chromosomal loci have also been investigated. However,according to strict criteria for what may be denominated a susceptibility gene in complex diseases,no such gene exists for PSC today. This review summarises present knowledge on the genetic susceptibility to PSC,as well as genetic associations with disease progression and clinical subsets of particular interest (inflammatory bowel disease and cholangiocarcinoma).
文摘The short report will be focused on the genetic basis and possible mechanisms of tumorigenesis, common types of cancer, the importance of genetic diagnosis of cancer, and the methodology of cancer genetic diagnosis. They will also review presymptomatic testing of hereditary cancers, and the application of expression profiling to identify patients likely to benefit from particular therapeutic approaches.
文摘The initiation and progression of cancer not only involves genetic abnormalities, but also epigenetic alterations, such as DNA methylation and histone modifications. Epigenetics refers to the heritable changes that do not involve any structural changes in the target gene, i.e., DNA sequence and protein sequence. Thus, these epigenetic aberrations are potentially reversible, allowing the malignant cells to revert to a state with more normal characteristics. The use of epigenetics is emerging as an effective and promising approach to treat cancer. Epigenetic drugs, which target two well- known epigenetic pathways, namely, DNA methyltransferases and histone deacetylases, are already being applied for the cancer treatment. In the current study, an overview regarding the under-standing of epigenetic alterations in the development of cancer and the current state of epigenetic drug discovery is provided.
