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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.
2
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.
3
Haplotype analysis to determine the position of a mutation among closely linked DNA markers.单倍型分析以确定紧密连锁的DNA标记中一个突变的位置。
Hum Mol Genet. 1993 Jul;2(7):1007-14. doi: 10.1093/hmg/2.7.1007.
4
Identification of the cystic fibrosis gene: genetic analysis.囊性纤维化基因的鉴定：遗传分析
Science. 1989 Sep 8;245(4922):1073-80. doi: 10.1126/science.2570460.
5
Polymerase chain reaction for detection of the pMP6d-9/MspI RFLP, a marker closely linked to the cystic fibrosis mutation.用于检测pMP6d - 9/MspI限制性片段长度多态性的聚合酶链反应，该多态性是一种与囊性纤维化突变紧密连锁的标记。
Nucleic Acids Res. 1989 Sep 12;17(17):7118. doi: 10.1093/nar/17.17.7118.
6
Molecular genetic approaches to cystic fibrosis.囊性纤维化的分子遗传学研究方法。
Biochem Soc Symp. 1987;53:145-54.
7
Patterns of polymorphism and linkage disequilibrium for cystic fibrosis.囊性纤维化的多态性和连锁不平衡模式。
Genomics. 1987 Nov;1(3):257-63. doi: 10.1016/0888-7543(87)90052-8.
8
In situ hybridization of two cloned chromosome 7 sequences tightly linked to the cystic fibrosis locus.与囊性纤维化基因座紧密连锁的两个克隆的7号染色体序列的原位杂交。
Cytogenet Cell Genet. 1988;49(4):309-10. doi: 10.1159/000132684.
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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.
10
Linkage disequilibrium between cystic fibrosis and linked DNA polymorphisms in Italian families: a collaborative study.意大利家庭中囊性纤维化与相关DNA多态性之间的连锁不平衡：一项合作研究。
Am J Hum Genet. 1988 Jul;43(1):23-8.

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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。
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2
Detection of marker associations with a dominant disease gene in genetically complex and heterogeneous diseases.在遗传复杂且异质性疾病中检测与显性疾病基因的标记物关联。
Am J Hum Genet. 1989 Oct;45(4):578-85.
3
Cystic fibrosis mutations in the Hutterite Brethren.哈特泰特人中的囊性纤维化突变
Am J Hum Genet. 1990 May;46(5):983-7.
4
Association of less common cystic fibrosis mutations with a mild phenotype.罕见囊性纤维化突变与轻度表型的关联。
J Med Genet. 1991 Jan;28(1):34-7. doi: 10.1136/jmg.28.1.34.
5
Marker haplotype association with growth in German cystic fibrosis patients.
Hum Genet. 1990 Feb;84(3):267-73. doi: 10.1007/BF00200573.
6
Cystic fibrosis genotypes and views on screening are both heterogeneous and population related.囊性纤维化的基因型以及关于筛查的观点既具有异质性又与人群相关。
Am J Hum Genet. 1992 Nov;51(5):943-50.

本文引用的文献

1
Polymorphism of DNA sequence in the beta-globin gene region. Application to prenatal diagnosis of beta 0 thalassemia in Sardinia.β-珠蛋白基因区域DNA序列的多态性。在撒丁岛β0地中海贫血产前诊断中的应用。
N Engl J Med. 1980 Jan 24;302(4):185-8. doi: 10.1056/NEJM198001243020401.
2
Quantification of the close association between DNA haplotypes and specific beta-thalassaemia mutations in Mediterraneans.地中海人群中DNA单倍型与特定β地中海贫血突变之间紧密关联的定量分析。
Nature. 1984;310(5973):152-4. doi: 10.1038/310152a0.
3
Genetic studies on cystic fibrosis in Hawaii.夏威夷囊性纤维化的遗传学研究。
Am J Hum Genet. 1968 Mar;20(2):157-69.
4
Report of the committee on the genetic constitution of chromosomes 7, 8 and 9.
Cytogenet Cell Genet. 1987;46(1-4):170-87. doi: 10.1159/000132476.
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
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.
7
Experience with new DNA markers for the diagnosis of cystic fibrosis.
N Engl J Med. 1988 Jan 7;318(1):50-1. doi: 10.1056/NEJM198801073180114.
8
A test of the heterozygote-advantage hypothesis in cystic fibrosis carriers.囊性纤维化携带者杂合子优势假说的一项测试。
Am J Hum Genet. 1988 Jun;42(6):808-15.
9
No evidence for genetic heterogeneity in cystic fibrosis.囊性纤维化不存在基因异质性的证据。
Am J Hum Genet. 1988 Jan;42(1):184.
10
Hypothesis: a selective advantage for cystic fibrosis heterozygotes.假设：囊性纤维化杂合子具有选择优势。
Am J Phys Anthropol. 1987 Sep;74(1):39-45. doi: 10.1002/ajpa.1330740104.

Tracing the mutations in cystic fibrosis by means of closely linked DNA markers.

作者信息

Tsui L C

机构信息

Department of Genetics, Research Institute, Hospital for Sick Children, University of Toronto, Ontario, Canada.

出版信息

Am J Hum Genet. 1989 Mar;44(3):303-6.

PMID:2916577
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1715423/
Abstract
摘要