使用连锁DNA标记对囊性纤维化进行基因分析。
Genetic analysis of cystic fibrosis using linked DNA markers.
作者信息
Tsui L C, Buetow K, Buchwald M
出版信息
Am J Hum Genet. 1986 Dec;39(6):720-8.
Abstract
Genetic linkage has been analyzed between cystic fibrosis (CF) and a number of markers on the long arm of chromosome 7, including D7S15, COL1A2, PON, MET, D7S8, and TCRB, using a cohort of 47 Canadian and 13 Danish CF families. The analysis confirms the previous observations that both MET and D7S8 are closely linked to CF. Based on the result from one family, MET appears to be more proximal to the centromere than CF. Our analysis also suggests that genetic heterogeneity may account for the high recombination fraction between CF and D7S8 observed in another family. In addition, a strong linkage disequilibrium has been observed between CF and the two closely flanking markers.
摘要
利用47个加拿大囊性纤维化（CF）家庭和13个丹麦CF家庭组成的队列，对CF与7号染色体长臂上的多个标记（包括D7S15、COL1A2、PON、MET、D7S8和TCRB）之间的遗传连锁进行了分析。该分析证实了之前的观察结果，即MET和D7S8均与CF紧密连锁。根据一个家庭的结果，MET似乎比CF更靠近着丝粒。我们的分析还表明，遗传异质性可能是另一个家庭中观察到的CF与D7S8之间高重组率的原因。此外，在CF与两个紧密侧翼标记之间观察到了强烈的连锁不平衡。
相似文献
1
Genetic analysis of cystic fibrosis using linked DNA markers.使用连锁DNA标记对囊性纤维化进行基因分析。
Am J Hum Genet. 1986 Dec;39(6):720-8.
2
Refined linkage map of chromosome 7 in the region of the cystic fibrosis gene.囊性纤维化基因区域7号染色体的精细连锁图谱。
Am J Hum Genet. 1988 Jan;42(1):38-44.
3
Linkage of cystic fibrosis to two tightly linked DNA markers: joint report from a collaborative study.囊性纤维化与两个紧密连锁的DNA标记的连锁关系：一项合作研究的联合报告
Am J Hum Genet. 1986 Dec;39(6):681-93.
4
Genetic analysis of cystic fibrosis: linkage of DNA and classical markers in multiplex families.囊性纤维化的基因分析：多个家族中DNA与经典标志物的连锁关系
Am J Hum Genet. 1986 Dec;39(6):699-706.
5
Studies of cystic fibrosis in Hutterite families by using linked DNA probes.运用连锁DNA探针研究哈特派家族中的囊性纤维化。
Am J Hum Genet. 1987 Dec;41(6):1145-51.
6
A linkage study of cystic fibrosis in extended multigenerational pedigrees.对多代大家庭系谱中囊性纤维化的连锁研究。
Am J Hum Genet. 1986 Dec;39(6):735-43.
7
Linkage of cystic fibrosis to the pro alpha 2(I) collagen gene, COL1A2, on chromosome 7.囊性纤维化与7号染色体上的前α2（I）胶原蛋白基因COL1A2的连锁关系。
Cytogenet Cell Genet. 1986;41(4):234-9. doi: 10.1159/000132235.
8
Mapping of DNA markers linked to the cystic fibrosis locus on the long arm of chromosome 7.与位于7号染色体长臂上的囊性纤维化基因座相关的DNA标记的定位。
Am J Hum Genet. 1987 Mar;40(3):228-36.
9
10
Linkage relationships and allelic associations of the cystic fibrosis locus and four marker loci.
Hum Genet. 1987 Aug;76(4):337-43. doi: 10.1007/BF00272441.
引用本文的文献
1
Unmet needs in respiratory diseases : "You can't know where you are going until you know where you have been"--Anonymous.呼吸疾病未满足的需求：“除非你知道自己从哪里来，否则你无法知道自己要去哪里”——匿名。
Clin Rev Allergy Immunol. 2013 Dec;45(3):303-13. doi: 10.1007/s12016-013-8399-2.
2
Impact of gene patents and licensing practices on access to genetic testing for cystic fibrosis.基因专利和许可做法对囊性纤维化基因检测可及性的影响。
Genet Med. 2010 Apr;12(4 Suppl):S194-211. doi: 10.1097/GIM.0b013e3181d7cf7d.
3
Markers informative for ancestry demonstrate consistent megabase-length linkage disequilibrium in the African American population.对血统有信息价值的标记物在非裔美国人种群中表现出一致的兆碱基长度连锁不平衡。
Hum Genet. 2003 Aug;113(3):211-9. doi: 10.1007/s00439-003-0961-1. Epub 2003 Jun 3.
4
Genetic markers on chromosome 7.7号染色体上的遗传标记。
J Med Genet. 1988 May;25(5):294-306. doi: 10.1136/jmg.25.5.294.
5
Cystic fibrosis.囊性纤维化
West J Med. 1988 Jan;148(1):62-9.
6
Linkage of cystic fibrosis to two tightly linked DNA markers: joint report from a collaborative study.囊性纤维化与两个紧密连锁的DNA标记的连锁关系：一项合作研究的联合报告
Am J Hum Genet. 1986 Dec;39(6):681-93.
7
Tracing the mutations in cystic fibrosis by means of closely linked DNA markers.通过紧密连锁的DNA标记追踪囊性纤维化中的突变。
Am J Hum Genet. 1989 Mar;44(3):303-6.
8
Identification and regional localization of DNA markers on chromosome 7 for the cloning of the cystic fibrosis gene.用于克隆囊性纤维化基因的7号染色体上DNA标记的鉴定及区域定位。
Am J Hum Genet. 1988 Nov;43(5):645-63.
9
Refined linkage map of chromosome 7 in the region of the cystic fibrosis gene.囊性纤维化基因区域7号染色体的精细连锁图谱。
Am J Hum Genet. 1988 Jan;42(1):38-44.
10
DNA marker haplotype association with pancreatic sufficiency in cystic fibrosis.DNA标记单倍型与囊性纤维化患者胰腺功能的关联
Am J Hum Genet. 1989 Jun;44(6):827-34.
本文引用的文献
1
Sequential tests for the detection of linkage.用于检测连锁的序贯检验。
Am J Hum Genet. 1955 Sep;7(3):277-318.
2
Phenotypic heterogeneity in cystic fibrosis.囊性纤维化中的表型异质性。
Am J Med Genet. 1982 Oct;13(2):179-95. doi: 10.1002/ajmg.1320130209.
3
Linkage analysis and family classification under heterogeneity.异质性下的连锁分析与家系分类
Ann Hum Genet. 1983 Oct;47(4):311-20. doi: 10.1111/j.1469-1809.1983.tb01001.x.
4
Strategies for multilocus linkage analysis in humans.人类多位点连锁分析策略。
Proc Natl Acad Sci U S A. 1984 Jun;81(11):3443-6. doi: 10.1073/pnas.81.11.3443.
5
A human T cell-specific cDNA clone encodes a protein having extensive homology to immunoglobulin chains.一个人类T细胞特异性cDNA克隆编码一种与免疫球蛋白链具有广泛同源性的蛋白质。
Nature. 1984;308(5955):145-9. doi: 10.1038/308145a0.
6
Cloning a cDNA for the pro-alpha 2 chain of human type I collagen.克隆人I型胶原α2前体链的cDNA。
Proc Natl Acad Sci U S A. 1981 Jun;78(6):3516-20. doi: 10.1073/pnas.78.6.3516.
7
Molecular heterogeneity in the mild autosomal dominant forms of osteogenesis imperfecta.轻度常染色体显性遗传性成骨不全症中的分子异质性。
Am J Hum Genet. 1984 Nov;36(6):1172-9.
8
9
The human met oncogene is related to the tyrosine kinase oncogenes.人类原癌基因与酪氨酸激酶原癌基因相关。
Nature. 1985;318(6044):385-8. doi: 10.1038/318385a0.
10
Isolation of a further anonymous informative DNA sequence from chromosome seven closely linked to cystic fibrosis.从七号染色体上分离出另一个与囊性纤维化紧密连锁的匿名信息性DNA序列。
Nucleic Acids Res. 1986 Mar 11;14(5):1951-6. doi: 10.1093/nar/14.5.1951.
Zotero 插件